Canonical Allele Identifier: CA339310174
Gene: GJB3 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.35250368A>C (hg19) chr1:g.34784767A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34784767A>C , CM000663.2:g.34784767A>C GRCh38
NC_000001.10:g.35250368A>C , CM000663.1:g.35250368A>C GRCh37
NC_000001.9:g.35022955A>C NCBI36
NG_008309.1:g.8579A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373366.3:c.5A>C (GJB3) MANE Select ENSP00000362464.2:p.Asp2Ala
ENST00000373362.3:c.5A>C (GJB3) ENSP00000362460.3:p.Asp2Ala
ENST00000373366.2:c.5A>C (GJB3) ENSP00000362464.2:p.Asp2Ala
ENST00000426886.1:c.208-66358T>G (SMIM12) ENSP00000429902.1:n.208-66358T>G
NM_001005752.1:c.5A>C (GJB3) NP_001005752.1:p.Asp2Ala
NM_024009.2:c.5A>C (GJB3) NP_076872.1:p.Asp2Ala
XR_947179.1:n.1001+13604T>G
XR_001737967.1:n.1023+13604T>G
NM_024009.3:c.5A>C (GJB3) MANE Select NP_076872.1:p.Asp2Ala
NM_001005752.2:c.5A>C (GJB3) NP_001005752.1:p.Asp2Ala
Search 100 bp 5'
Search 100 bp 3'