Canonical Allele Identifier: CA1659501673
Gene: GJA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447498C= , CM000668.2:g.121447498C= GRCh38
NC_000006.11:g.121768644C= , CM000668.1:g.121768644C= GRCh37
NC_000006.10:g.121810343C= NCBI36
NG_008308.1:g.16900C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.651C= MANE Select ENSP00000282561.3:p.Ser217=
ENST00000647564.1:c.651C= ENSP00000497565.1:p.Ser217=
ENST00000649003.1:c.651C= ENSP00000497283.1:p.Ser217=
ENST00000650427.1:c.651C= ENSP00000497367.1:p.Ser217=
ENST00000282561.3:c.651C= ENSP00000282561.3:p.Ser217=
NM_000165.4:c.651C= NP_000156.1:p.Ser217=
NM_000165.5:c.651C= MANE Select NP_000156.1:p.Ser217=
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