Canonical Allele Identifier: CA277028
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 210399
ClinVar RCV Id: RCV000192830
dbSNP Id: rs797045336

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78009176C>G , CM000685.2:g.78009176C>G GRCh38
NC_000023.10:g.77264673C>G , CM000685.1:g.77264673C>G GRCh37
NC_000023.9:g.77151329C>G NCBI36
NG_013224.2:g.103480C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000341514.10:c.1782C>G ENSP00000345728.6:p.Tyr594Ter
ENST00000343533.9:c.1782C>G ENSP00000343026.5:p.Tyr594Ter
ENST00000350425.5:c.*955C>G ENSP00000343678.5:p.=
NM_000052.6:c.1782C>G NP_000043.4:p.Tyr594Ter
NM_001282224.1:c.1782C>G NP_001269153.1:p.Tyr594Ter
NM_000052.7:c.1782C>G MANE Select NP_000043.4:p.Tyr594Ter
NM_001282224.2:c.1782C>G NP_001269153.1:p.Tyr594Ter