Linked Data
ClinVar Variation Id:
533685
dbSNP Id:
rs150526992
ExAC:
X:77244998 A / T
gnomAD v2:
X-77244998-A-T
gnomAD v3:
X-77989502-A-T
gnomAD v4:
X-77989502-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77989502A>T , CM000685.2:g.77989502A>T | GRCh38 |
| NC_000023.10:g.77244998A>T , CM000685.1:g.77244998A>T | GRCh37 |
| NC_000023.9:g.77131654A>T | NCBI36 |
| NG_013224.2:g.83806A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343533.10:c.910A>T (ATP7A) | ENSP00000343026.6:p.Asn304Tyr | |
| ENST00000682742.2:n.1042A>T (ATP7A) | ||
| ENST00000685208.1:n.1543A>T (ATP7A) | ||
| ENST00000685264.1:c.880A>T (ATP7A) | ENSP00000510136.1:p.Asn294Tyr | |
| ENST00000685434.1:n.998A>T (ATP7A) | ||
| ENST00000685885.1:c.916A>T (ATP7A) | ENSP00000510005.1:p.Asn306Tyr | |
| ENST00000686033.1:c.880A>T (ATP7A) | ENSP00000510693.1:p.Asn294Tyr | |
| ENST00000686133.1:c.880A>T (ATP7A) | ENSP00000509233.1:p.Asn294Tyr | |
| ENST00000686416.1:n.1234A>T (ATP7A) | ||
| ENST00000686480.1:c.880A>T (ATP7A) | ENSP00000508978.1:p.Asn294Tyr | |
| ENST00000686515.1:n.1020A>T (ATP7A) | ||
| ENST00000686543.1:c.880A>T (ATP7A) | ENSP00000509477.1:p.Asn294Tyr | |
| ENST00000686688.1:c.880A>T (ATP7A) | ENSP00000509416.1:p.Asn294Tyr | |
| ENST00000686999.1:n.1191A>T (ATP7A) | ||
| ENST00000687086.1:c.880A>T (ATP7A) | ENSP00000509566.1:p.Asn294Tyr | |
| ENST00000687416.1:c.880A>T (ATP7A) | ENSP00000510310.1:p.Asn294Tyr | |
| ENST00000687599.1:c.880A>T (ATP7A) | ENSP00000508745.1:p.Asn294Tyr | |
| ENST00000687628.1:n.981A>T (ATP7A) | ||
| ENST00000687984.1:c.880A>T (ATP7A) | ENSP00000510772.1:p.Asn294Tyr | |
| ENST00000688249.1:c.880A>T (ATP7A) | ENSP00000510644.1:p.Asn294Tyr | |
| ENST00000688338.1:c.880A>T (ATP7A) | ENSP00000508672.1:p.Asn294Tyr | |
| ENST00000688746.1:n.1032A>T (ATP7A) | ||
| ENST00000688889.1:c.*794A>T (ATP7A) | ENSP00000508610.1:n.*794A>T | |
| ENST00000689530.1:c.880A>T (ATP7A) | ENSP00000509707.1:p.Asn294Tyr | |
| ENST00000689541.1:n.1189A>T (ATP7A) | ||
| ENST00000689649.1:c.880A>T (ATP7A) | ENSP00000509277.1:p.Asn294Tyr | |
| ENST00000689767.1:c.880A>T (ATP7A) | ENSP00000509406.1:p.Asn294Tyr | |
| ENST00000689872.1:c.880A>T (ATP7A) | ENSP00000509373.1:p.Asn294Tyr | |
| ENST00000689891.1:c.880A>T (ATP7A) | ENSP00000508974.1:p.Asn294Tyr | |
| ENST00000691152.1:c.880A>T (ATP7A) | ENSP00000508843.1:p.Asn294Tyr | |
| ENST00000691456.1:n.1171A>T (ATP7A) | ||
| ENST00000692110.1:c.880A>T (ATP7A) | ENSP00000509366.1:p.Asn294Tyr | |
| ENST00000692908.1:c.880A>T (ATP7A) | ENSP00000508627.1:p.Asn294Tyr | |
| ENST00000693051.1:c.880A>T (ATP7A) | ENSP00000510332.1:p.Asn294Tyr | |
| ENST00000693387.1:c.*809A>T (ATP7A) | ENSP00000508732.1:n.*809A>T | |
| ENST00000693398.1:c.880A>T (ATP7A) | ENSP00000510089.1:p.Asn294Tyr | |
| ENST00000341514.11:c.880A>T (ATP7A) MANE Select | ENSP00000345728.6:p.Asn294Tyr | |
| ENST00000644362.1:c.-20+78667A>T (PGK1) | ENSP00000496140.1:n.-20+78667A>T | |
| ENST00000645094.1:c.*794A>T (ATP7A) | ENSP00000493605.1:n.*794A>T | |
| ENST00000341514.10:c.880A>T (ATP7A) | ENSP00000345728.6:p.Asn294Tyr | |
| ENST00000343533.9:c.880A>T (ATP7A) | ENSP00000343026.5:p.Asn294Tyr | |
| ENST00000350425.5:c.*53A>T (ATP7A) | ENSP00000343678.5:n.*53A>T | |
| NM_000052.6:c.880A>T (ATP7A) | NP_000043.4:p.Asn294Tyr | |
| NM_001282224.1:c.880A>T (ATP7A) | NP_001269153.1:p.Asn294Tyr | |
| NR_104109.1:n.321+17741A>T (ATP7A) | ||
| NM_000052.7:c.880A>T (ATP7A) MANE Select | NP_000043.4:p.Asn294Tyr | |
| NR_104109.2:n.284+17741A>T (ATP7A) | ||
| NM_001282224.2:c.880A>T (ATP7A) | NP_001269153.1:p.Asn294Tyr |