Canonical Allele Identifier: CA1199589248

Gene: GJA5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147756684A>G , CM000663.2:g.147756684A>G	GRCh38
NC_000001.10:g.147228817A>G , CM000663.1:g.147228817A>G	GRCh37
NC_000001.9:g.145695441A>G	NCBI36
NG_009369.2:g.21691T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_181703.4:c.*1478T>C MANE Select	NP_859054.1:n.*1478T>C
ENST00000579774.3:c.*1478T>C MANE Select	ENSP00000463851.1:n.*1478T>C
NM_005266.6:c.*1478T>C	NP_005257.2:n.*1478T>C
NM_005266.7:c.*1478T>C	NP_005257.2:n.*1478T>C
NM_181703.3:c.*1478T>C	NP_859054.1:n.*1478T>C
ENST00000579774.2:c.*1478T>C	ENSP00000463851.1:n.*1478T>C
ENST00000621517.1:c.*1478T>C	ENSP00000484552.1:n.*1478T>C
XM_005272951.3:c.*1478T>C	XP_005273008.1:n.*1478T>C
XM_005272951.4:c.*1478T>C	XP_005273008.1:n.*1478T>C
XM_011509415.1:c.*1478T>C	XP_011507717.1:n.*1478T>C
XM_017001044.1:c.*1478T>C	XP_016856533.1:n.*1478T>C
XR_922078.1:n.434-20877A>G
XR_922079.1:n.434-20877A>G
XR_922079.3:n.744-20877A>G