Canonical Allele Identifier: CA10642936
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311286
ClinVar RCV Id: RCV000347292
dbSNP Id: rs886050005
MyVariant Identifiers: chr13:g.20712938A>C (hg19) chr13:g.20138799A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20138799A>C , CM000675.2:g.20138799A>C GRCh38
NC_000013.10:g.20712938A>C , CM000675.1:g.20712938A>C GRCh37
NC_000013.9:g.19610938A>C NCBI36
NG_016399.1:g.27246T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*3182T>G MANE Select ENSP00000241125.3:n.*3182T>G
ENST00000241125.3:c.*3182T>G ENSP00000241125.3:n.*3182T>G
NM_021954.3:c.*3182T>G NP_068773.2:n.*3182T>G
XM_005266353.1:c.*3182T>G XP_005266410.1:n.*3182T>G
XM_011535048.1:c.*3182T>G XP_011533350.1:n.*3182T>G
XM_011535048.2:c.*3182T>G XP_011533350.1:n.*3182T>G
NM_021954.4:c.*3182T>G MANE Select NP_068773.2:n.*3182T>G
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