Canonical Allele Identifier: CA2840846318

Gene: GJA5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758660dup , CM000663.2:g.147758660dup	GRCh38
NC_000001.10:g.147230768dup , CM000663.1:g.147230768dup	GRCh37
NC_000001.9:g.145697392dup	NCBI36
NG_009369.2:g.19716dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.580dup MANE Select	ENSP00000463851.1:p.Val194GlyfsTer29
ENST00000430508.1:c.580dup	ENSP00000407645.1:p.Val194GlyfsTer29
ENST00000579774.2:c.580dup	ENSP00000463851.1:p.Val194GlyfsTer29
ENST00000621517.1:c.580dup	ENSP00000484552.1:p.Val194GlyfsTer29
NM_005266.6:c.580dup	NP_005257.2:p.Val194GlyfsTer29
NM_181703.3:c.580dup	NP_859054.1:p.Val194GlyfsTer29
XM_005272951.3:c.580dup	XP_005273008.1:p.Val194GlyfsTer29
XM_011509415.1:c.580dup	XP_011507717.1:p.Val194GlyfsTer29
XR_922078.1:n.434-18901dup
XR_922079.1:n.434-18901dup
XM_005272951.4:c.580dup	XP_005273008.1:p.Val194GlyfsTer29
XM_017001044.1:c.580dup	XP_016856533.1:p.Val194GlyfsTer29
XR_922079.3:n.744-18901dup
NM_181703.4:c.580dup MANE Select	NP_859054.1:p.Val194GlyfsTer29
NM_005266.7:c.580dup	NP_005257.2:p.Val194GlyfsTer29