Canonical Allele Identifier: CA10639073
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311288
ClinVar RCV Id: RCV000307708
dbSNP Id: rs886050006
gnomAD v2: 13-20713012-G-A
gnomAD v3: 13-20138873-G-A
gnomAD v4: 13-20138873-G-A
MyVariant Identifiers: chr13:g.20713012G>A (hg19) chr13:g.20138873G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20138873G>A , CM000675.2:g.20138873G>A GRCh38
NC_000013.10:g.20713012G>A , CM000675.1:g.20713012G>A GRCh37
NC_000013.9:g.19611012G>A NCBI36
NG_016399.1:g.27172C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*3108C>T MANE Select ENSP00000241125.3:n.*3108C>T
ENST00000241125.3:c.*3108C>T ENSP00000241125.3:n.*3108C>T
NM_021954.3:c.*3108C>T NP_068773.2:n.*3108C>T
XM_005266353.1:c.*3108C>T XP_005266410.1:n.*3108C>T
XM_011535048.1:c.*3108C>T XP_011533350.1:n.*3108C>T
XM_011535048.2:c.*3108C>T XP_011533350.1:n.*3108C>T
NM_021954.4:c.*3108C>T MANE Select NP_068773.2:n.*3108C>T
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