Canonical Allele Identifier: CA277041
Gene: ATP7A HGNC NCBI

Linked Data

ClinVar Variation Id: 210436
dbSNP Id: rs138958687

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78021066A>G , CM000685.2:g.78021066A>G GRCh38
NC_000023.10:g.77276563A>G , CM000685.1:g.77276563A>G GRCh37
NC_000023.9:g.77163219A>G NCBI36
NG_013224.2:g.115370A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000341514.11:c.2903A>G MANE Select ENSP00000345728.6:p.Glu968Gly
ENST00000644362.1:c.-19-88801A>G ENSP00000496140.1:p.=
ENST00000645094.1:c.*2817A>G ENSP00000493605.1:p.=
ENST00000341514.10:c.2903A>G ENSP00000345728.6:p.Glu968Gly
ENST00000343533.9:c.2669A>G ENSP00000343026.5:p.Glu890Gly
ENST00000350425.5:c.*2076A>G ENSP00000343678.5:p.=
NM_000052.6:c.2903A>G NP_000043.4:p.Glu968Gly
NM_001282224.1:c.2669A>G NP_001269153.1:p.Glu890Gly
NR_104109.1:n.322-10334A>G
NM_000052.7:c.2903A>G MANE Select NP_000043.4:p.Glu968Gly
NR_104109.2:n.285-10334A>G
NM_001282224.2:c.2669A>G NP_001269153.1:p.Glu890Gly