Canonical Allele Identifier: CA256071
Gene: ATP7A HGNC NCBI
PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11792
ClinVar RCV Id: RCV000012559 RCV000194377 RCV003238723
dbSNP Id: rs151340632
MyVariant Identifiers: chrX:g.77298192A>G (hg19) chrX:g.78042694A>G (hg38)
PubMed: PMID:17108763
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78042694A>G , CM000685.2:g.78042694A>G GRCh38
NC_000023.10:g.77298192A>G , CM000685.1:g.77298192A>G GRCh37
NC_000023.9:g.77184848A>G NCBI36
NG_013224.2:g.136998A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343533.10:c.3941A>G (ATP7A) ENSP00000343026.6:p.Asn1314Ser
ENST00000682475.1:n.2328A>G (ATP7A)
ENST00000685033.1:c.1175A>G (ATP7A) ENSP00000509269.1:p.Asn392Ser
ENST00000685264.1:c.3911A>G (ATP7A) ENSP00000510136.1:p.Asn1304Ser
ENST00000686033.1:c.3716A>G (ATP7A) ENSP00000510693.1:p.Asn1239Ser
ENST00000686133.1:c.3911A>G (ATP7A) ENSP00000509233.1:p.Asn1304Ser
ENST00000686255.1:n.2942A>G (ATP7A)
ENST00000686543.1:c.3677A>G (ATP7A) ENSP00000509477.1:p.Asn1226Ser
ENST00000687086.1:c.3911A>G (ATP7A) ENSP00000509566.1:p.Asn1304Ser
ENST00000689514.1:n.1953A>G (ATP7A)
ENST00000689767.1:c.4004A>G (ATP7A) ENSP00000509406.1:p.Asn1335Ser
ENST00000692908.1:c.3677A>G (ATP7A) ENSP00000508627.1:p.Asn1226Ser
ENST00000341514.11:c.3911A>G (ATP7A) MANE Select ENSP00000345728.6:p.Asn1304Ser
ENST00000644362.1:c.-19-67173A>G (PGK1) ENSP00000496140.1:n.-19-67173A>G
ENST00000341514.10:c.3911A>G (ATP7A) ENSP00000345728.6:p.Asn1304Ser
ENST00000343533.9:c.3677A>G (ATP7A) ENSP00000343026.5:p.Asn1226Ser
ENST00000350425.5:c.*3084A>G (ATP7A) ENSP00000343678.5:n.*3084A>G
NM_000052.6:c.3911A>G (ATP7A) NP_000043.4:p.Asn1304Ser
NM_001282224.1:c.3677A>G (ATP7A) NP_001269153.1:p.Asn1226Ser
NR_104109.1:n.1121A>G (ATP7A)
NM_000052.7:c.3911A>G (ATP7A) MANE Select NP_000043.4:p.Asn1304Ser
NR_104109.2:n.1084A>G (ATP7A)
NM_001282224.2:c.3677A>G (ATP7A) NP_001269153.1:p.Asn1226Ser
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