Linked Data
dbSNP Id:
rs1557234068
gnomAD v2:
X-77264567-T-C
gnomAD v4:
X-78009070-T-C
MyVariant Identifiers:
chrX:g.77264567T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78009070T>C , CM000685.2:g.78009070T>C | GRCh38 |
| NC_000023.10:g.77264567T>C , CM000685.1:g.77264567T>C | GRCh37 |
| NC_000023.9:g.77151223T>C | NCBI36 |
| NG_013224.2:g.103374T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.1738-32T>C (ATP7A) | ENSP00000343026.6:n.1738-32T>C | |
| ENST00000682742.2:n.1870-32T>C (ATP7A) | ||
| ENST00000685264.1:c.1708-32T>C (ATP7A) | ENSP00000510136.1:n.1708-32T>C | |
| ENST00000685434.1:n.1742-32T>C (ATP7A) | ||
| ENST00000686033.1:c.1708-32T>C (ATP7A) | ENSP00000510693.1:n.1708-32T>C | |
| ENST00000686133.1:c.1708-32T>C (ATP7A) | ENSP00000509233.1:n.1708-32T>C | |
| ENST00000686416.1:n.2062-32T>C (ATP7A) | ||
| ENST00000686480.1:c.1708-32T>C (ATP7A) | ENSP00000508978.1:n.1708-32T>C | |
| ENST00000686515.1:n.1848-32T>C (ATP7A) | ||
| ENST00000686543.1:c.1708-32T>C (ATP7A) | ENSP00000509477.1:n.1708-32T>C | |
| ENST00000686688.1:c.1708-32T>C (ATP7A) | ENSP00000509416.1:n.1708-32T>C | |
| ENST00000686999.1:n.2019-32T>C (ATP7A) | ||
| ENST00000687086.1:c.1708-32T>C (ATP7A) | ENSP00000509566.1:n.1708-32T>C | |
| ENST00000687628.1:n.1809-32T>C (ATP7A) | ||
| ENST00000688746.1:n.1860-32T>C (ATP7A) | ||
| ENST00000689530.1:c.1708-32T>C (ATP7A) | ENSP00000509707.1:n.1708-32T>C | |
| ENST00000689541.1:n.2017-32T>C (ATP7A) | ||
| ENST00000689649.1:c.1708-32T>C (ATP7A) | ENSP00000509277.1:n.1708-32T>C | |
| ENST00000689767.1:c.1801-32T>C (ATP7A) | ENSP00000509406.1:n.1801-32T>C | |
| ENST00000689872.1:c.1708-32T>C (ATP7A) | ENSP00000509373.1:n.1708-32T>C | |
| ENST00000692110.1:c.1624-32T>C (ATP7A) | ENSP00000509366.1:n.1624-32T>C | |
| ENST00000692908.1:c.1708-32T>C (ATP7A) | ENSP00000508627.1:n.1708-32T>C | |
| ENST00000693387.1:c.*1637-32T>C (ATP7A) | ENSP00000508732.1:n.*1637-32T>C | |
| ENST00000693398.1:c.1708-32T>C (ATP7A) | ENSP00000510089.1:n.1708-32T>C | |
| ENST00000341514.11:c.1708-32T>C (ATP7A) MANE Select | ENSP00000345728.6:n.1708-32T>C | |
| ENST00000644362.1:c.-20+98235T>C (PGK1) | ENSP00000496140.1:n.-20+98235T>C | |
| ENST00000645094.1:c.*1622-32T>C (ATP7A) | ENSP00000493605.1:n.*1622-32T>C | |
| ENST00000341514.10:c.1708-32T>C (ATP7A) | ENSP00000345728.6:n.1708-32T>C | |
| ENST00000343533.9:c.1708-32T>C (ATP7A) | ENSP00000343026.5:n.1708-32T>C | |
| ENST00000350425.5:c.*881-32T>C (ATP7A) | ENSP00000343678.5:n.*881-32T>C | |
| NM_000052.6:c.1708-32T>C (ATP7A) | NP_000043.4:n.1708-32T>C | |
| NM_001282224.1:c.1708-32T>C (ATP7A) | NP_001269153.1:n.1708-32T>C | |
| NR_104109.1:n.322-22330T>C (ATP7A) | ||
| NM_000052.7:c.1708-32T>C (ATP7A) MANE Select | NP_000043.4:n.1708-32T>C | |
| NR_104109.2:n.285-22330T>C (ATP7A) | ||
| NM_001282224.2:c.1708-32T>C (ATP7A) | NP_001269153.1:n.1708-32T>C |