Canonical Allele Identifier: CA10642956
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311318
ClinVar RCV Id: RCV000384827
dbSNP Id: rs549434985
gnomAD v2: 13-20715473-C-T
gnomAD v3: 13-20141334-C-T
gnomAD v4: 13-20141334-C-T
MyVariant Identifiers: chr13:g.20715473C>T (hg19) chr13:g.20141334C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20141334C>T , CM000675.2:g.20141334C>T GRCh38
NC_000013.10:g.20715473C>T , CM000675.1:g.20715473C>T GRCh37
NC_000013.9:g.19613473C>T NCBI36
NG_016399.1:g.24711G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*647G>A MANE Select ENSP00000241125.3:n.*647G>A
ENST00000241125.3:c.*647G>A ENSP00000241125.3:n.*647G>A
NM_021954.3:c.*647G>A NP_068773.2:n.*647G>A
XM_005266353.1:c.*647G>A XP_005266410.1:n.*647G>A
XM_011535048.1:c.*647G>A XP_011533350.1:n.*647G>A
XM_011535048.2:c.*647G>A XP_011533350.1:n.*647G>A
NM_021954.4:c.*647G>A MANE Select NP_068773.2:n.*647G>A
Search 100 bp 5'
Search 100 bp 3'