Canonical Allele Identifier: CA2647660396

Gene: GJA5

Linked Data

• gnomAD v4: 1-147757815-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147757815G>T , CM000663.2:g.147757815G>T	GRCh38
NC_000001.10:g.147229923G>T , CM000663.1:g.147229923G>T	GRCh37
NC_000001.9:g.145696547G>T	NCBI36
NG_009369.2:g.20560C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.*347C>A MANE Select	ENSP00000463851.1:n.*347C>A
ENST00000579774.2:c.*347C>A	ENSP00000463851.1:n.*347C>A
ENST00000621517.1:c.*347C>A	ENSP00000484552.1:n.*347C>A
NM_005266.6:c.*347C>A	NP_005257.2:n.*347C>A
NM_181703.3:c.*347C>A	NP_859054.1:n.*347C>A
XM_005272951.3:c.*347C>A	XP_005273008.1:n.*347C>A
XM_011509415.1:c.*347C>A	XP_011507717.1:n.*347C>A
XR_922078.1:n.434-19746G>T
XR_922079.1:n.434-19746G>T
XM_005272951.4:c.*347C>A	XP_005273008.1:n.*347C>A
XM_017001044.1:c.*347C>A	XP_016856533.1:n.*347C>A
XR_922079.3:n.744-19746G>T
NM_181703.4:c.*347C>A MANE Select	NP_859054.1:n.*347C>A
NM_005266.7:c.*347C>A	NP_005257.2:n.*347C>A