Canonical Allele Identifier: CA365559009

Gene: GJA1

Linked Data

• MyVariant Identifiers: chr6:g.121768427T>G (hg19) ; chr6:g.121447281T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447281T>G , CM000668.2:g.121447281T>G	GRCh38
NC_000006.11:g.121768427T>G , CM000668.1:g.121768427T>G	GRCh37
NC_000006.10:g.121810126T>G	NCBI36
NG_008308.1:g.16683T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.434T>G MANE Select	ENSP00000282561.3:p.Val145Gly
ENST00000647564.1:c.434T>G	ENSP00000497565.1:p.Val145Gly
ENST00000649003.1:c.434T>G	ENSP00000497283.1:p.Val145Gly
ENST00000650427.1:c.434T>G	ENSP00000497367.1:p.Val145Gly
ENST00000282561.3:c.434T>G	ENSP00000282561.3:p.Val145Gly
NM_000165.4:c.434T>G	NP_000156.1:p.Val145Gly
NM_000165.5:c.434T>G MANE Select	NP_000156.1:p.Val145Gly