Canonical Allele Identifier: CA339310171

Gene: GJB3 SMIM12

Linked Data

• MyVariant Identifiers: chr1:g.35250367G>T (hg19) ; chr1:g.34784766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784766G>T , CM000663.2:g.34784766G>T	GRCh38
NC_000001.10:g.35250367G>T , CM000663.1:g.35250367G>T	GRCh37
NC_000001.9:g.35022954G>T	NCBI36
NG_008309.1:g.8578G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.4G>T (GJB3) MANE Select	ENSP00000362464.2:p.Asp2Tyr
ENST00000373362.3:c.4G>T (GJB3)	ENSP00000362460.3:p.Asp2Tyr
ENST00000373366.2:c.4G>T (GJB3)	ENSP00000362464.2:p.Asp2Tyr
ENST00000426886.1:c.208-66357C>A (SMIM12)	ENSP00000429902.1:n.208-66357C>A
NM_001005752.1:c.4G>T (GJB3)	NP_001005752.1:p.Asp2Tyr
NM_024009.2:c.4G>T (GJB3)	NP_076872.1:p.Asp2Tyr
XR_947179.1:n.1001+13605C>A
XR_001737967.1:n.1023+13605C>A
NM_024009.3:c.4G>T (GJB3) MANE Select	NP_076872.1:p.Asp2Tyr
NM_001005752.2:c.4G>T (GJB3)	NP_001005752.1:p.Asp2Tyr