Canonical Allele Identifier: CA1162031819
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781541T= , CM000663.2:g.34781541T= GRCh38
NC_000001.10:g.35247142T= , CM000663.1:g.35247142T= GRCh37
NC_000001.9:g.35019729T= NCBI36
NG_008309.1:g.5353T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-263T= (GJB3) MANE Select ENSP00000362464.2:n.-263T=
ENST00000373366.2:c.-263T= (GJB3) ENSP00000362464.2:n.-263T=
ENST00000426886.1:c.208-63132A= (SMIM12) ENSP00000429902.1:n.208-63132A=
NM_024009.2:c.-263T= (GJB3) NP_076872.1:n.-263T=
XR_947179.1:n.1001+16830A=
XR_001737967.1:n.1023+16830A=
NM_024009.3:c.-263T= (GJB3) MANE Select NP_076872.1:n.-263T=
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