Linked Data
dbSNP Id:
rs1557231680
gnomAD v2:
X-77244253-T-C
gnomAD v4:
X-77988757-T-C
MyVariant Identifiers:
chrX:g.77244253T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77988757T>C , CM000685.2:g.77988757T>C | GRCh38 |
| NC_000023.10:g.77244253T>C , CM000685.1:g.77244253T>C | GRCh37 |
| NC_000023.9:g.77130909T>C | NCBI36 |
| NG_013224.2:g.83061T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.640+26T>C (ATP7A) | ENSP00000343026.6:n.640+26T>C | |
| ENST00000682742.2:n.772+26T>C (ATP7A) | ||
| ENST00000685208.1:n.798T>C (ATP7A) | ||
| ENST00000685264.1:c.610+26T>C (ATP7A) | ENSP00000510136.1:n.610+26T>C | |
| ENST00000685434.1:n.728+26T>C (ATP7A) | ||
| ENST00000685885.1:c.646+26T>C (ATP7A) | ENSP00000510005.1:n.646+26T>C | |
| ENST00000686033.1:c.610+26T>C (ATP7A) | ENSP00000510693.1:n.610+26T>C | |
| ENST00000686133.1:c.610+26T>C (ATP7A) | ENSP00000509233.1:n.610+26T>C | |
| ENST00000686416.1:n.964+26T>C (ATP7A) | ||
| ENST00000686480.1:c.610+26T>C (ATP7A) | ENSP00000508978.1:n.610+26T>C | |
| ENST00000686515.1:n.750+26T>C (ATP7A) | ||
| ENST00000686543.1:c.610+26T>C (ATP7A) | ENSP00000509477.1:n.610+26T>C | |
| ENST00000686688.1:c.610+26T>C (ATP7A) | ENSP00000509416.1:n.610+26T>C | |
| ENST00000686999.1:n.921+26T>C (ATP7A) | ||
| ENST00000687082.1:n.754T>C (ATP7A) | ||
| ENST00000687086.1:c.610+26T>C (ATP7A) | ENSP00000509566.1:n.610+26T>C | |
| ENST00000687325.1:n.939T>C (ATP7A) | ||
| ENST00000687416.1:c.610+26T>C (ATP7A) | ENSP00000510310.1:n.610+26T>C | |
| ENST00000687599.1:c.610+26T>C (ATP7A) | ENSP00000508745.1:n.610+26T>C | |
| ENST00000687628.1:n.711+26T>C (ATP7A) | ||
| ENST00000687984.1:c.610+26T>C (ATP7A) | ENSP00000510772.1:n.610+26T>C | |
| ENST00000688249.1:c.610+26T>C (ATP7A) | ENSP00000510644.1:n.610+26T>C | |
| ENST00000688338.1:c.610+26T>C (ATP7A) | ENSP00000508672.1:n.610+26T>C | |
| ENST00000688746.1:n.762+26T>C (ATP7A) | ||
| ENST00000688889.1:c.*524+26T>C (ATP7A) | ENSP00000508610.1:n.*524+26T>C | |
| ENST00000689530.1:c.610+26T>C (ATP7A) | ENSP00000509707.1:n.610+26T>C | |
| ENST00000689541.1:n.919+26T>C (ATP7A) | ||
| ENST00000689649.1:c.610+26T>C (ATP7A) | ENSP00000509277.1:n.610+26T>C | |
| ENST00000689767.1:c.610+26T>C (ATP7A) | ENSP00000509406.1:n.610+26T>C | |
| ENST00000689872.1:c.610+26T>C (ATP7A) | ENSP00000509373.1:n.610+26T>C | |
| ENST00000689891.1:c.610+26T>C (ATP7A) | ENSP00000508974.1:n.610+26T>C | |
| ENST00000691152.1:c.610+26T>C (ATP7A) | ENSP00000508843.1:n.610+26T>C | |
| ENST00000691456.1:n.901+26T>C (ATP7A) | ||
| ENST00000692110.1:c.610+26T>C (ATP7A) | ENSP00000509366.1:n.610+26T>C | |
| ENST00000692908.1:c.610+26T>C (ATP7A) | ENSP00000508627.1:n.610+26T>C | |
| ENST00000693051.1:c.610+26T>C (ATP7A) | ENSP00000510332.1:n.610+26T>C | |
| ENST00000693387.1:c.*539+26T>C (ATP7A) | ENSP00000508732.1:n.*539+26T>C | |
| ENST00000693398.1:c.610+26T>C (ATP7A) | ENSP00000510089.1:n.610+26T>C | |
| ENST00000341514.11:c.610+26T>C (ATP7A) MANE Select | ENSP00000345728.6:n.610+26T>C | |
| ENST00000644362.1:c.-20+77922T>C (PGK1) | ENSP00000496140.1:n.-20+77922T>C | |
| ENST00000645094.1:c.*524+26T>C (ATP7A) | ENSP00000493605.1:n.*524+26T>C | |
| ENST00000341514.10:c.610+26T>C (ATP7A) | ENSP00000345728.6:n.610+26T>C | |
| ENST00000343533.9:c.610+26T>C (ATP7A) | ENSP00000343026.5:n.610+26T>C | |
| ENST00000350425.5:c.610+26T>C (ATP7A) | ENSP00000343678.5:n.610+26T>C | |
| NM_000052.6:c.610+26T>C (ATP7A) | NP_000043.4:n.610+26T>C | |
| NM_001282224.1:c.610+26T>C (ATP7A) | NP_001269153.1:n.610+26T>C | |
| NR_104109.1:n.321+16996T>C (ATP7A) | ||
| NM_000052.7:c.610+26T>C (ATP7A) MANE Select | NP_000043.4:n.610+26T>C | |
| NR_104109.2:n.284+16996T>C (ATP7A) | ||
| NM_001282224.2:c.610+26T>C (ATP7A) | NP_001269153.1:n.610+26T>C |