Canonical Allele Identifier: CA339310174

Gene: GJB3 SMIM12

Linked Data

• MyVariant Identifiers: chr1:g.35250368A>C (hg19) ; chr1:g.34784767A>C (hg38)

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