Canonical Allele Identifier: CA1162031876
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

dbSNP Id: rs1640011149
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781638C>T , CM000663.2:g.34781638C>T GRCh38
NC_000001.10:g.35247239C>T , CM000663.1:g.35247239C>T GRCh37
NC_000001.9:g.35019826C>T NCBI36
NG_008309.1:g.5450C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-166C>T (GJB3) MANE Select ENSP00000362464.2:n.-166C>T
ENST00000373366.2:c.-166C>T (GJB3) ENSP00000362464.2:n.-166C>T
ENST00000426886.1:c.208-63229G>A (SMIM12) ENSP00000429902.1:n.208-63229G>A
NM_024009.2:c.-166C>T (GJB3) NP_076872.1:n.-166C>T
XR_947179.1:n.1001+16733G>A
XR_001737967.1:n.1023+16733G>A
NM_024009.3:c.-166C>T (GJB3) MANE Select NP_076872.1:n.-166C>T
Search 100 bp 5'
Search 100 bp 3'