Canonical Allele Identifier: CA10608022
Gene: GJA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 292452
ClinVar RCV Id: RCV000270784
dbSNP Id: rs886045252

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758905C>G , CM000663.2:g.147758905C>G GRCh38
NC_000001.10:g.147231013C>G , CM000663.1:g.147231013C>G GRCh37
NC_000001.9:g.145697637C>G NCBI36
NG_009369.2:g.19470G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000579774.3:c.334G>C MANE Select ENSP00000463851.1:p.Glu112Gln
ENST00000430508.1:c.334G>C ENSP00000407645.1:p.Glu112Gln
ENST00000579774.2:c.334G>C ENSP00000463851.1:p.Glu112Gln
ENST00000621517.1:c.334G>C ENSP00000484552.1:p.Glu112Gln
NM_005266.6:c.334G>C NP_005257.2:p.Glu112Gln
NM_181703.3:c.334G>C NP_859054.1:p.Glu112Gln
XM_005272951.3:c.334G>C XP_005273008.1:p.Glu112Gln
XM_011509415.1:c.334G>C XP_011507717.1:p.Glu112Gln
XR_922078.1:n.434-18656C>G
XR_922079.1:n.434-18656C>G
XM_005272951.4:c.334G>C XP_005273008.1:p.Glu112Gln
XM_017001044.1:c.334G>C XP_016856533.1:p.Glu112Gln
XR_922079.3:n.744-18656C>G
NM_181703.4:c.334G>C MANE Select NP_859054.1:p.Glu112Gln
NM_005266.7:c.334G>C NP_005257.2:p.Glu112Gln