Canonical Allele Identifier: CA420511156

Gene: GJA5

Linked Data

• MyVariant Identifiers: chr1:g.147229739C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147757631C>A , CM000663.2:g.147757631C>A	GRCh38
NC_000001.10:g.147229739C>A , CM000663.1:g.147229739C>A	GRCh37
NC_000001.9:g.145696363C>A	NCBI36
NG_009369.2:g.20744G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.*531G>T MANE Select	ENSP00000463851.1:n.*531G>T
ENST00000579774.2:c.*531G>T	ENSP00000463851.1:n.*531G>T
ENST00000621517.1:c.*531G>T	ENSP00000484552.1:n.*531G>T
NM_005266.6:c.*531G>T	NP_005257.2:n.*531G>T
NM_181703.3:c.*531G>T	NP_859054.1:n.*531G>T
XM_005272951.3:c.*531G>T	XP_005273008.1:n.*531G>T
XM_011509415.1:c.*531G>T	XP_011507717.1:n.*531G>T
XR_922078.1:n.434-19930C>A
XR_922079.1:n.434-19930C>A
XM_005272951.4:c.*531G>T	XP_005273008.1:n.*531G>T
XM_017001044.1:c.*531G>T	XP_016856533.1:n.*531G>T
XR_922079.3:n.744-19930C>A
NM_181703.4:c.*531G>T MANE Select	NP_859054.1:n.*531G>T
NM_005266.7:c.*531G>T	NP_005257.2:n.*531G>T