Canonical Allele Identifier: CA342395226
Gene: GJA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2057986
ClinVar RCV Id: RCV002928352
dbSNP Id: rs1663842091

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147758589A>G , CM000663.2:g.147758589A>G GRCh38
NC_000001.10:g.147230697A>G , CM000663.1:g.147230697A>G GRCh37
NC_000001.9:g.145697321A>G NCBI36
NG_009369.2:g.19786T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000579774.3:c.650T>C MANE Select ENSP00000463851.1:p.Leu217Pro
ENST00000430508.1:c.650T>C ENSP00000407645.1:p.Leu217Pro
ENST00000579774.2:c.650T>C ENSP00000463851.1:p.Leu217Pro
ENST00000621517.1:c.650T>C ENSP00000484552.1:p.Leu217Pro
NM_005266.6:c.650T>C NP_005257.2:p.Leu217Pro
NM_181703.3:c.650T>C NP_859054.1:p.Leu217Pro
XM_005272951.3:c.650T>C XP_005273008.1:p.Leu217Pro
XM_011509415.1:c.650T>C XP_011507717.1:p.Leu217Pro
XR_922078.1:n.434-18972A>G
XR_922079.1:n.434-18972A>G
XM_005272951.4:c.650T>C XP_005273008.1:p.Leu217Pro
XM_017001044.1:c.650T>C XP_016856533.1:p.Leu217Pro
XR_922079.3:n.744-18972A>G
NM_181703.4:c.650T>C MANE Select NP_859054.1:p.Leu217Pro
NM_005266.7:c.650T>C NP_005257.2:p.Leu217Pro