Canonical Allele Identifier: CA10642961
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311326
ClinVar RCV Id: RCV000338663 RCV001711920
dbSNP Id: rs1886176
gnomAD v2: 13-20715801-C-A
gnomAD v3: 13-20141662-C-A
gnomAD v4: 13-20141662-C-A
MyVariant Identifiers: chr13:g.20715801C>A (hg19) chr13:g.20141662C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20141662C>A , CM000675.2:g.20141662C>A GRCh38
NC_000013.10:g.20715801C>A , CM000675.1:g.20715801C>A GRCh37
NC_000013.9:g.19613801C>A NCBI36
NG_016399.1:g.24383G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*319G>T MANE Select ENSP00000241125.3:n.*319G>T
ENST00000241125.3:c.*319G>T ENSP00000241125.3:n.*319G>T
NM_021954.3:c.*319G>T NP_068773.2:n.*319G>T
XM_005266353.1:c.*319G>T XP_005266410.1:n.*319G>T
XM_011535048.1:c.*319G>T XP_011533350.1:n.*319G>T
XM_011535048.2:c.*319G>T XP_011533350.1:n.*319G>T
NM_021954.4:c.*319G>T MANE Select NP_068773.2:n.*319G>T
Search 100 bp 5'
Search 100 bp 3'