UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
235208
ClinVar RCV Id:
RCV000224715
dbSNP Id:
rs376654190
ExAC:
X:77224487 C / T
gnomAD v2:
X-77224487-C-T
gnomAD v3:
X-77968990-C-T
gnomAD v4:
X-77968990-C-T
COSMIC:
COSM1644082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77968990C>T , CM000685.2:g.77968990C>T | GRCh38 |
| NC_000023.10:g.77224487C>T , CM000685.1:g.77224487C>T | GRCh37 |
| NC_000023.9:g.77111143C>T | NCBI36 |
| NG_013224.2:g.63294C>T | |
| NG_021360.1:g.5649G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343533.10:c.10-2631C>T (ATP7A) | ENSP00000343026.6:n.10-2631C>T | |
| ENST00000682742.2:n.142-2631C>T (ATP7A) | ||
| ENST00000684798.1:c.-21-2631C>T (ATP7A) | ENSP00000510429.1:n.-21-2631C>T | |
| ENST00000685208.1:n.142-2631C>T (ATP7A) | ||
| ENST00000685264.1:c.-21-2631C>T (ATP7A) | ENSP00000510136.1:n.-21-2631C>T | |
| ENST00000685434.1:n.98-2631C>T (ATP7A) | ||
| ENST00000685885.1:c.16-2631C>T (ATP7A) | ENSP00000510005.1:n.16-2631C>T | |
| ENST00000686033.1:c.-21-2631C>T (ATP7A) | ENSP00000510693.1:n.-21-2631C>T | |
| ENST00000686050.1:c.-21-2631C>T (ATP7A) | ENSP00000510562.1:n.-21-2631C>T | |
| ENST00000686133.1:c.-21-2631C>T (ATP7A) | ENSP00000509233.1:n.-21-2631C>T | |
| ENST00000686416.1:n.334-2631C>T (ATP7A) | ||
| ENST00000686464.1:c.-21-2631C>T (ATP7A) | ENSP00000510468.1:n.-21-2631C>T | |
| ENST00000686480.1:c.-21-2631C>T (ATP7A) | ENSP00000508978.1:n.-21-2631C>T | |
| ENST00000686515.1:n.120-2631C>T (ATP7A) | ||
| ENST00000686543.1:c.-21-2631C>T (ATP7A) | ENSP00000509477.1:n.-21-2631C>T | |
| ENST00000686560.1:c.-21-2631C>T (ATP7A) | ENSP00000509431.1:n.-21-2631C>T | |
| ENST00000686688.1:c.-21-2631C>T (ATP7A) | ENSP00000509416.1:n.-21-2631C>T | |
| ENST00000686896.1:c.-21-2631C>T (ATP7A) | ENSP00000509538.1:n.-21-2631C>T | |
| ENST00000686999.1:n.291-2631C>T (ATP7A) | ||
| ENST00000687082.1:n.98-2631C>T (ATP7A) | ||
| ENST00000687086.1:c.-21-2631C>T (ATP7A) | ENSP00000509566.1:n.-21-2631C>T | |
| ENST00000687325.1:n.283-2631C>T (ATP7A) | ||
| ENST00000687416.1:c.-21-2631C>T (ATP7A) | ENSP00000510310.1:n.-21-2631C>T | |
| ENST00000687599.1:c.-21-2631C>T (ATP7A) | ENSP00000508745.1:n.-21-2631C>T | |
| ENST00000687628.1:n.81-2631C>T (ATP7A) | ||
| ENST00000687984.1:c.-21-2631C>T (ATP7A) | ENSP00000510772.1:n.-21-2631C>T | |
| ENST00000688165.1:c.-21-2631C>T (ATP7A) | ENSP00000509828.1:n.-21-2631C>T | |
| ENST00000688249.1:c.-21-2631C>T (ATP7A) | ENSP00000510644.1:n.-21-2631C>T | |
| ENST00000688338.1:c.-21-2631C>T (ATP7A) | ENSP00000508672.1:n.-21-2631C>T | |
| ENST00000688746.1:n.132-2631C>T (ATP7A) | ||
| ENST00000688889.1:c.-21-2631C>T (ATP7A) | ENSP00000508610.1:n.-21-2631C>T | |
| ENST00000689530.1:c.-21-2631C>T (ATP7A) | ENSP00000509707.1:n.-21-2631C>T | |
| ENST00000689541.1:n.289-2631C>T (ATP7A) | ||
| ENST00000689649.1:c.-21-2631C>T (ATP7A) | ENSP00000509277.1:n.-21-2631C>T | |
| ENST00000689731.1:c.-21-2631C>T (ATP7A) | ENSP00000510791.1:n.-21-2631C>T | |
| ENST00000689767.1:c.-21-2631C>T (ATP7A) | ENSP00000509406.1:n.-21-2631C>T | |
| ENST00000689872.1:c.-2652C>T (ATP7A) | ENSP00000509373.1:n.-2652C>T | |
| ENST00000689891.1:c.-21-2631C>T (ATP7A) | ENSP00000508974.1:n.-21-2631C>T | |
| ENST00000691152.1:c.-21-2631C>T (ATP7A) | ENSP00000508843.1:n.-21-2631C>T | |
| ENST00000691456.1:n.271-2631C>T (ATP7A) | ||
| ENST00000692110.1:c.-21-2631C>T (ATP7A) | ENSP00000509366.1:n.-21-2631C>T | |
| ENST00000692729.1:c.-21-2631C>T (ATP7A) | ENSP00000509207.1:n.-21-2631C>T | |
| ENST00000692908.1:c.-21-2631C>T (ATP7A) | ENSP00000508627.1:n.-21-2631C>T | |
| ENST00000693051.1:c.-21-2631C>T (ATP7A) | ENSP00000510332.1:n.-21-2631C>T | |
| ENST00000693167.1:c.-21-2631C>T (ATP7A) | ENSP00000509601.1:n.-21-2631C>T | |
| ENST00000693387.1:c.-21-2631C>T (ATP7A) | ENSP00000508732.1:n.-21-2631C>T | |
| ENST00000693398.1:c.-21-2631C>T (ATP7A) | ENSP00000510089.1:n.-21-2631C>T | |
| ENST00000341514.11:c.-21-2631C>T (ATP7A) MANE Select | ENSP00000345728.6:n.-21-2631C>T | |
| ENST00000458128.3:c.649G>A (PGAM4) MANE Select | ENSP00000412189.1:p.Val217Ile | |
| ENST00000642651.1:c.-21-2631C>T (ATP7A) | ENSP00000495628.1:n.-21-2631C>T | |
| ENST00000644362.1:c.-20+58155C>T (PGK1) | ENSP00000496140.1:n.-20+58155C>T | |
| ENST00000645094.1:c.-21-2631C>T (ATP7A) | ENSP00000493605.1:n.-21-2631C>T | |
| ENST00000645454.1:c.-21-2631C>T (ATP7A) | ENSP00000496603.1:n.-21-2631C>T | |
| ENST00000341514.10:c.-21-2631C>T (ATP7A) | ENSP00000345728.6:n.-21-2631C>T | |
| ENST00000343533.9:c.-21-2631C>T (ATP7A) | ENSP00000343026.5:n.-21-2631C>T | |
| ENST00000350425.5:c.-21-2631C>T (ATP7A) | ENSP00000343678.5:n.-21-2631C>T | |
| ENST00000458128.2:c.649G>A (PGAM4) | ENSP00000412189.1:p.Val217Ile | |
| NM_000052.6:c.-21-2631C>T (ATP7A) | NP_000043.4:n.-21-2631C>T | |
| NM_001029891.2:c.649G>A (PGAM4) | NP_001025062.1:p.Val217Ile | |
| NM_001282224.1:c.-21-2631C>T (ATP7A) | NP_001269153.1:n.-21-2631C>T | |
| NR_104109.1:n.181-2631C>T (ATP7A) | ||
| NM_000052.7:c.-21-2631C>T (ATP7A) MANE Select | NP_000043.4:n.-21-2631C>T | |
| NM_001029891.3:c.649G>A (PGAM4) MANE Select | NP_001025062.1:p.Val217Ile | |
| NR_104109.2:n.144-2631C>T (ATP7A) | ||
| NM_001282224.2:c.-21-2631C>T (ATP7A) | NP_001269153.1:n.-21-2631C>T |