Canonical Allele Identifier: CA342397350

Gene: GJA5

Linked Data

• ClinVar Variation Id: 2165178
• ClinVar RCV Id: RCV003088406
• gnomAD v4: 1-147758970-A-G
• MyVariant Identifiers: chr1:g.147231078A>G (hg19) ; chr1:g.147758970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758970A>G , CM000663.2:g.147758970A>G	GRCh38
NC_000001.10:g.147231078A>G , CM000663.1:g.147231078A>G	GRCh37
NC_000001.9:g.145697702A>G	NCBI36
NG_009369.2:g.19405T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.269T>C MANE Select	ENSP00000463851.1:p.Leu90Pro
ENST00000430508.1:c.269T>C	ENSP00000407645.1:p.Leu90Pro
ENST00000579774.2:c.269T>C	ENSP00000463851.1:p.Leu90Pro
ENST00000621517.1:c.269T>C	ENSP00000484552.1:p.Leu90Pro
NM_005266.6:c.269T>C	NP_005257.2:p.Leu90Pro
NM_181703.3:c.269T>C	NP_859054.1:p.Leu90Pro
XM_005272951.3:c.269T>C	XP_005273008.1:p.Leu90Pro
XM_011509415.1:c.269T>C	XP_011507717.1:p.Leu90Pro
XR_922078.1:n.434-18591A>G
XR_922079.1:n.434-18591A>G
XM_005272951.4:c.269T>C	XP_005273008.1:p.Leu90Pro
XM_017001044.1:c.269T>C	XP_016856533.1:p.Leu90Pro
XR_922079.3:n.744-18591A>G
NM_181703.4:c.269T>C MANE Select	NP_859054.1:p.Leu90Pro
NM_005266.7:c.269T>C	NP_005257.2:p.Leu90Pro