Canonical Allele Identifier: CA10642958
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311321
ClinVar RCV Id: RCV000376663
dbSNP Id: rs886050016
gnomAD v3: 13-20141428-G-A
gnomAD v4: 13-20141428-G-A
MyVariant Identifiers: chr13:g.20715567G>A (hg19) chr13:g.20141428G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20141428G>A , CM000675.2:g.20141428G>A GRCh38
NC_000013.10:g.20715567G>A , CM000675.1:g.20715567G>A GRCh37
NC_000013.9:g.19613567G>A NCBI36
NG_016399.1:g.24617C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*553C>T MANE Select ENSP00000241125.3:n.*553C>T
ENST00000241125.3:c.*553C>T ENSP00000241125.3:n.*553C>T
NM_021954.3:c.*553C>T NP_068773.2:n.*553C>T
XM_005266353.1:c.*553C>T XP_005266410.1:n.*553C>T
XM_011535048.1:c.*553C>T XP_011533350.1:n.*553C>T
XM_011535048.2:c.*553C>T XP_011533350.1:n.*553C>T
NM_021954.4:c.*553C>T MANE Select NP_068773.2:n.*553C>T
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