Canonical Allele Identifier: CA2647660398

Gene: GJA5

Linked Data

• gnomAD v4: 1-147757818-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147757818A>C , CM000663.2:g.147757818A>C	GRCh38
NC_000001.10:g.147229926A>C , CM000663.1:g.147229926A>C	GRCh37
NC_000001.9:g.145696550A>C	NCBI36
NG_009369.2:g.20557T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.*344T>G MANE Select	ENSP00000463851.1:n.*344T>G
ENST00000579774.2:c.*344T>G	ENSP00000463851.1:n.*344T>G
ENST00000621517.1:c.*344T>G	ENSP00000484552.1:n.*344T>G
NM_005266.6:c.*344T>G	NP_005257.2:n.*344T>G
NM_181703.3:c.*344T>G	NP_859054.1:n.*344T>G
XM_005272951.3:c.*344T>G	XP_005273008.1:n.*344T>G
XM_011509415.1:c.*344T>G	XP_011507717.1:n.*344T>G
XR_922078.1:n.434-19743A>C
XR_922079.1:n.434-19743A>C
XM_005272951.4:c.*344T>G	XP_005273008.1:n.*344T>G
XM_017001044.1:c.*344T>G	XP_016856533.1:n.*344T>G
XR_922079.3:n.744-19743A>C
NM_181703.4:c.*344T>G MANE Select	NP_859054.1:n.*344T>G
NM_005266.7:c.*344T>G	NP_005257.2:n.*344T>G