Canonical Allele Identifier: CA342395193
Gene: GJA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384515
ClinVar RCV Id: RCV001897641
dbSNP Id: rs1553226912

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758581G>A , CM000663.2:g.147758581G>A GRCh38
NC_000001.10:g.147230689G>A , CM000663.1:g.147230689G>A GRCh37
NC_000001.9:g.145697313G>A NCBI36
NG_009369.2:g.19794C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.658C>T MANE Select ENSP00000463851.1:p.Leu220Phe
ENST00000430508.1:c.658C>T ENSP00000407645.1:p.Leu220Phe
ENST00000579774.2:c.658C>T ENSP00000463851.1:p.Leu220Phe
ENST00000621517.1:c.658C>T ENSP00000484552.1:p.Leu220Phe
NM_005266.6:c.658C>T NP_005257.2:p.Leu220Phe
NM_181703.3:c.658C>T NP_859054.1:p.Leu220Phe
XM_005272951.3:c.658C>T XP_005273008.1:p.Leu220Phe
XM_011509415.1:c.658C>T XP_011507717.1:p.Leu220Phe
XR_922078.1:n.434-18980G>A
XR_922079.1:n.434-18980G>A
XM_005272951.4:c.658C>T XP_005273008.1:p.Leu220Phe
XM_017001044.1:c.658C>T XP_016856533.1:p.Leu220Phe
XR_922079.3:n.744-18980G>A
NM_181703.4:c.658C>T MANE Select NP_859054.1:p.Leu220Phe
NM_005266.7:c.658C>T NP_005257.2:p.Leu220Phe