Canonical Allele Identifier: CA20568425
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs756127940
gnomAD v4: 1-34781531-G-A
MyVariant Identifiers: chr1:g.35247132G>A (hg19) chr1:g.34781531G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781531G>A , CM000663.2:g.34781531G>A GRCh38
NC_000001.10:g.35247132G>A , CM000663.1:g.35247132G>A GRCh37
NC_000001.9:g.35019719G>A NCBI36
NG_008309.1:g.5343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-273G>A (GJB3) MANE Select ENSP00000362464.2:n.-273G>A
ENST00000373366.2:c.-273G>A (GJB3) ENSP00000362464.2:n.-273G>A
ENST00000426886.1:c.208-63122C>T (SMIM12) ENSP00000429902.1:n.208-63122C>T
NM_024009.2:c.-273G>A (GJB3) NP_076872.1:n.-273G>A
XR_947179.1:n.1001+16840C>T
XR_001737967.1:n.1023+16840C>T
NM_024009.3:c.-273G>A (GJB3) MANE Select NP_076872.1:n.-273G>A
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