Canonical Allele Identifier: CA1065664

Gene: GJA5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758244C>T , CM000663.2:g.147758244C>T	GRCh38
NC_000001.10:g.147230352C>T , CM000663.1:g.147230352C>T	GRCh37
NC_000001.9:g.145696976C>T	NCBI36
NG_009369.2:g.20131G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_181703.4:c.995G>A MANE Select	NP_859054.1:p.Arg332His
ENST00000579774.3:c.995G>A MANE Select	ENSP00000463851.1:p.Arg332His
NM_005266.6:c.995G>A	NP_005257.2:p.Arg332His
NM_005266.7:c.995G>A	NP_005257.2:p.Arg332His
NM_181703.3:c.995G>A	NP_859054.1:p.Arg332His
ENST00000579774.2:c.995G>A	ENSP00000463851.1:p.Arg332His
ENST00000621517.1:c.995G>A	ENSP00000484552.1:p.Arg332His
XM_005272951.3:c.995G>A	XP_005273008.1:p.Arg332His
XM_005272951.4:c.995G>A	XP_005273008.1:p.Arg332His
XM_011509415.1:c.995G>A	XP_011507717.1:p.Arg332His
XM_017001044.1:c.995G>A	XP_016856533.1:p.Arg332His
XR_922078.1:n.434-19317C>T
XR_922079.1:n.434-19317C>T
XR_922079.3:n.744-19317C>T