Canonical Allele Identifier: CA2647659976

Gene: GJA5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147756680C>A , CM000663.2:g.147756680C>A	GRCh38
NC_000001.10:g.147228813C>A , CM000663.1:g.147228813C>A	GRCh37
NC_000001.9:g.145695437C>A	NCBI36
NG_009369.2:g.21695G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181703.4:c.*1482G>T MANE Select	NP_859054.1:n.*1482G>T
ENST00000579774.3:c.*1482G>T MANE Select	ENSP00000463851.1:n.*1482G>T
NM_005266.6:c.*1482G>T	NP_005257.2:n.*1482G>T
NM_005266.7:c.*1482G>T	NP_005257.2:n.*1482G>T
NM_181703.3:c.*1482G>T	NP_859054.1:n.*1482G>T
ENST00000579774.2:c.*1482G>T	ENSP00000463851.1:n.*1482G>T
ENST00000621517.1:c.*1482G>T	ENSP00000484552.1:n.*1482G>T
XM_005272951.3:c.*1482G>T	XP_005273008.1:n.*1482G>T
XM_005272951.4:c.*1482G>T	XP_005273008.1:n.*1482G>T
XM_011509415.1:c.*1482G>T	XP_011507717.1:n.*1482G>T
XM_017001044.1:c.*1482G>T	XP_016856533.1:n.*1482G>T
XR_922078.1:n.434-20881C>A
XR_922079.1:n.434-20881C>A
XR_922079.3:n.744-20881C>A