Canonical Allele Identifier: CA1162031827
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781550T= , CM000663.2:g.34781550T= GRCh38
NC_000001.10:g.35247151T= , CM000663.1:g.35247151T= GRCh37
NC_000001.9:g.35019738T= NCBI36
NG_008309.1:g.5362T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-254T= (GJB3) MANE Select ENSP00000362464.2:n.-254T=
ENST00000373366.2:c.-254T= (GJB3) ENSP00000362464.2:n.-254T=
ENST00000426886.1:c.208-63141A= (SMIM12) ENSP00000429902.1:n.208-63141A=
NM_024009.2:c.-254T= (GJB3) NP_076872.1:n.-254T=
XR_947179.1:n.1001+16821A=
XR_001737967.1:n.1023+16821A=
NM_024009.3:c.-254T= (GJB3) MANE Select NP_076872.1:n.-254T=
Search 100 bp 5'
Search 100 bp 3'