Canonical Allele Identifier: CA10607628
Gene: GJA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 292451
dbSNP Id: rs886045251

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758897G>C , CM000663.2:g.147758897G>C GRCh38
NC_000001.10:g.147231005G>C , CM000663.1:g.147231005G>C GRCh37
NC_000001.9:g.145697629G>C NCBI36
NG_009369.2:g.19478C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000579774.3:c.342C>G MANE Select ENSP00000463851.1:p.Ala114=
ENST00000430508.1:c.342C>G ENSP00000407645.1:p.Ala114=
ENST00000579774.2:c.342C>G ENSP00000463851.1:p.Ala114=
ENST00000621517.1:c.342C>G ENSP00000484552.1:p.Ala114=
NM_005266.6:c.342C>G NP_005257.2:p.Ala114=
NM_181703.3:c.342C>G NP_859054.1:p.Ala114=
XM_005272951.3:c.342C>G XP_005273008.1:p.Ala114=
XM_011509415.1:c.342C>G XP_011507717.1:p.Ala114=
XR_922078.1:n.434-18664G>C
XR_922079.1:n.434-18664G>C
XM_005272951.4:c.342C>G XP_005273008.1:p.Ala114=
XM_017001044.1:c.342C>G XP_016856533.1:p.Ala114=
XR_922079.3:n.744-18664G>C
NM_181703.4:c.342C>G MANE Select NP_859054.1:p.Ala114=
NM_005266.7:c.342C>G NP_005257.2:p.Ala114=