Canonical Allele Identifier: CA1065756
Gene: GJA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 844690
ClinVar RCV Id: RCV001047602
dbSNP Id: rs782538185

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758760C>A , CM000663.2:g.147758760C>A GRCh38
NC_000001.10:g.147230868C>A , CM000663.1:g.147230868C>A GRCh37
NC_000001.9:g.145697492C>A NCBI36
NG_009369.2:g.19615G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.479G>T MANE Select ENSP00000463851.1:p.Arg160Leu
ENST00000430508.1:c.479G>T ENSP00000407645.1:p.Arg160Leu
ENST00000579774.2:c.479G>T ENSP00000463851.1:p.Arg160Leu
ENST00000621517.1:c.479G>T ENSP00000484552.1:p.Arg160Leu
NM_005266.6:c.479G>T NP_005257.2:p.Arg160Leu
NM_181703.3:c.479G>T NP_859054.1:p.Arg160Leu
XM_005272951.3:c.479G>T XP_005273008.1:p.Arg160Leu
XM_011509415.1:c.479G>T XP_011507717.1:p.Arg160Leu
XR_922078.1:n.434-18801C>A
XR_922079.1:n.434-18801C>A
XM_005272951.4:c.479G>T XP_005273008.1:p.Arg160Leu
XM_017001044.1:c.479G>T XP_016856533.1:p.Arg160Leu
XR_922079.3:n.744-18801C>A
NM_181703.4:c.479G>T MANE Select NP_859054.1:p.Arg160Leu
NM_005266.7:c.479G>T NP_005257.2:p.Arg160Leu