Canonical Allele Identifier: CA342395288

Gene: GJA5

Linked Data

• ClinVar Variation Id: 1904621
• ClinVar RCV Id: RCV002577777
• gnomAD v4: 1-147758604-A-G
• COSMIC: COSM4762424
• MyVariant Identifiers: chr1:g.147230712A>G (hg19) ; chr1:g.147758604A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758604A>G , CM000663.2:g.147758604A>G	GRCh38
NC_000001.10:g.147230712A>G , CM000663.1:g.147230712A>G	GRCh37
NC_000001.9:g.145697336A>G	NCBI36
NG_009369.2:g.19771T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.635T>C MANE Select	ENSP00000463851.1:p.Leu212Pro
ENST00000430508.1:c.635T>C	ENSP00000407645.1:p.Leu212Pro
ENST00000579774.2:c.635T>C	ENSP00000463851.1:p.Leu212Pro
ENST00000621517.1:c.635T>C	ENSP00000484552.1:p.Leu212Pro
NM_005266.6:c.635T>C	NP_005257.2:p.Leu212Pro
NM_181703.3:c.635T>C	NP_859054.1:p.Leu212Pro
XM_005272951.3:c.635T>C	XP_005273008.1:p.Leu212Pro
XM_011509415.1:c.635T>C	XP_011507717.1:p.Leu212Pro
XR_922078.1:n.434-18957A>G
XR_922079.1:n.434-18957A>G
XM_005272951.4:c.635T>C	XP_005273008.1:p.Leu212Pro
XM_017001044.1:c.635T>C	XP_016856533.1:p.Leu212Pro
XR_922079.3:n.744-18957A>G
NM_181703.4:c.635T>C MANE Select	NP_859054.1:p.Leu212Pro
NM_005266.7:c.635T>C	NP_005257.2:p.Leu212Pro