Canonical Allele Identifier: CA10625774

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121448115T>C , CM000668.2:g.121448115T>C	GRCh38
NC_000006.11:g.121769261T>C , CM000668.1:g.121769261T>C	GRCh37
NC_000006.10:g.121810960T>C	NCBI36
NG_008308.1:g.17517T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000165.5:c.*119T>C MANE Select	NP_000156.1:n.*119T>C
ENST00000282561.4:c.*119T>C MANE Select	ENSP00000282561.3:n.*119T>C
NM_000165.4:c.*119T>C	NP_000156.1:n.*119T>C
ENST00000282561.3:c.*119T>C	ENSP00000282561.3:n.*119T>C
ENST00000647564.1:c.*119T>C	ENSP00000497565.1:n.*119T>C
ENST00000649003.1:c.*119T>C	ENSP00000497283.1:n.*119T>C
ENST00000650427.1:c.*119T>C	ENSP00000497367.1:n.*119T>C