Canonical Allele Identifier: CA10608012

Gene: GJA5

Linked Data

• ClinVar Variation Id: 292436
• ClinVar RCV Id: RCV000325178
• dbSNP Id: rs886045242
• gnomAD v3: 1-147756766-C-T
• gnomAD v4: 1-147756766-C-T
• MyVariant Identifiers: chr1:g.147228899C>T (hg19) ; chr1:g.147756766C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147756766C>T , CM000663.2:g.147756766C>T	GRCh38
NC_000001.10:g.147228899C>T , CM000663.1:g.147228899C>T	GRCh37
NC_000001.9:g.145695523C>T	NCBI36
NG_009369.2:g.21609G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000579774.3:c.*1396G>A MANE Select	ENSP00000463851.1:n.*1396G>A
ENST00000579774.2:c.*1396G>A	ENSP00000463851.1:n.*1396G>A
ENST00000621517.1:c.*1396G>A	ENSP00000484552.1:n.*1396G>A
NM_005266.6:c.*1396G>A	NP_005257.2:n.*1396G>A
NM_181703.3:c.*1396G>A	NP_859054.1:n.*1396G>A
XM_005272951.3:c.*1396G>A	XP_005273008.1:n.*1396G>A
XM_011509415.1:c.*1396G>A	XP_011507717.1:n.*1396G>A
XR_922078.1:n.434-20795C>T
XR_922079.1:n.434-20795C>T
XM_005272951.4:c.*1396G>A	XP_005273008.1:n.*1396G>A
XM_017001044.1:c.*1396G>A	XP_016856533.1:n.*1396G>A
XR_922079.3:n.744-20795C>T
NM_181703.4:c.*1396G>A MANE Select	NP_859054.1:n.*1396G>A
NM_005266.7:c.*1396G>A	NP_005257.2:n.*1396G>A