Canonical Allele Identifier: CA2647660477

Gene: GJA5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147757910G>T , CM000663.2:g.147757910G>T	GRCh38
NC_000001.10:g.147230018G>T , CM000663.1:g.147230018G>T	GRCh37
NC_000001.9:g.145696642G>T	NCBI36
NG_009369.2:g.20465C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_181703.4:c.*252C>A MANE Select	NP_859054.1:n.*252C>A
ENST00000579774.3:c.*252C>A MANE Select	ENSP00000463851.1:n.*252C>A
NM_005266.6:c.*252C>A	NP_005257.2:n.*252C>A
NM_005266.7:c.*252C>A	NP_005257.2:n.*252C>A
NM_181703.3:c.*252C>A	NP_859054.1:n.*252C>A
ENST00000579774.2:c.*252C>A	ENSP00000463851.1:n.*252C>A
ENST00000621517.1:c.*252C>A	ENSP00000484552.1:n.*252C>A
XM_005272951.3:c.*252C>A	XP_005273008.1:n.*252C>A
XM_005272951.4:c.*252C>A	XP_005273008.1:n.*252C>A
XM_011509415.1:c.*252C>A	XP_011507717.1:n.*252C>A
XM_017001044.1:c.*252C>A	XP_016856533.1:n.*252C>A
XR_922078.1:n.434-19651G>T
XR_922079.1:n.434-19651G>T
XR_922079.3:n.744-19651G>T