Canonical Allele Identifier: CA10639078
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311330
ClinVar RCV Id: RCV000405223
dbSNP Id: rs886050019
gnomAD v2: 13-20716019-C-T
gnomAD v3: 13-20141880-C-T
gnomAD v4: 13-20141880-C-T
MyVariant Identifiers: chr13:g.20716019C>T (hg19) chr13:g.20141880C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20141880C>T , CM000675.2:g.20141880C>T GRCh38
NC_000013.10:g.20716019C>T , CM000675.1:g.20716019C>T GRCh37
NC_000013.9:g.19614019C>T NCBI36
NG_016399.1:g.24165G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*101G>A MANE Select ENSP00000241125.3:n.*101G>A
ENST00000241125.3:c.*101G>A ENSP00000241125.3:n.*101G>A
NM_021954.3:c.*101G>A NP_068773.2:n.*101G>A
XM_005266353.1:c.*101G>A XP_005266410.1:n.*101G>A
XM_011535048.1:c.*101G>A XP_011533350.1:n.*101G>A
XM_011535048.2:c.*101G>A XP_011533350.1:n.*101G>A
NM_021954.4:c.*101G>A MANE Select NP_068773.2:n.*101G>A
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