Canonical Allele Identifier: CA2644768962
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

gnomAD v4: 1-34781647-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781647C>A , CM000663.2:g.34781647C>A GRCh38
NC_000001.10:g.35247248C>A , CM000663.1:g.35247248C>A GRCh37
NC_000001.9:g.35019835C>A NCBI36
NG_008309.1:g.5459C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-157C>A (GJB3) MANE Select ENSP00000362464.2:n.-157C>A
ENST00000373366.2:c.-157C>A (GJB3) ENSP00000362464.2:n.-157C>A
ENST00000426886.1:c.208-63238G>T (SMIM12) ENSP00000429902.1:n.208-63238G>T
NM_024009.2:c.-157C>A (GJB3) NP_076872.1:n.-157C>A
XR_947179.1:n.1001+16724G>T
XR_001737967.1:n.1023+16724G>T
NM_024009.3:c.-157C>A (GJB3) MANE Select NP_076872.1:n.-157C>A
Search 100 bp 5'
Search 100 bp 3'