Canonical Allele Identifier: CA1162031845
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34781588G= , CM000663.2:g.34781588G= GRCh38
NC_000001.10:g.35247189G= , CM000663.1:g.35247189G= GRCh37
NC_000001.9:g.35019776G= NCBI36
NG_008309.1:g.5400G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.-216G= (GJB3) MANE Select ENSP00000362464.2:n.-216G=
ENST00000373366.2:c.-216G= (GJB3) ENSP00000362464.2:n.-216G=
ENST00000426886.1:c.208-63179C= (SMIM12) ENSP00000429902.1:n.208-63179C=
NM_024009.2:c.-216G= (GJB3) NP_076872.1:n.-216G=
XR_947179.1:n.1001+16783C=
XR_001737967.1:n.1023+16783C=
NM_024009.3:c.-216G= (GJB3) MANE Select NP_076872.1:n.-216G=
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