Canonical Allele Identifier: CA2644768941
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

gnomAD v4: 1-34781628-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781628A>G , CM000663.2:g.34781628A>G GRCh38
NC_000001.10:g.35247229A>G , CM000663.1:g.35247229A>G GRCh37
NC_000001.9:g.35019816A>G NCBI36
NG_008309.1:g.5440A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-176A>G (GJB3) MANE Select ENSP00000362464.2:n.-176A>G
ENST00000373366.2:c.-176A>G (GJB3) ENSP00000362464.2:n.-176A>G
ENST00000426886.1:c.208-63219T>C (SMIM12) ENSP00000429902.1:n.208-63219T>C
NM_024009.2:c.-176A>G (GJB3) NP_076872.1:n.-176A>G
XR_947179.1:n.1001+16743T>C
XR_001737967.1:n.1023+16743T>C
NM_024009.3:c.-176A>G (GJB3) MANE Select NP_076872.1:n.-176A>G
Search 100 bp 5'
Search 100 bp 3'