Canonical Allele Identifier: CA406015810

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1479560393
• gnomAD v2: 19-41930502-T-C
• MyVariant Identifiers: chr19:g.41930502T>C (hg19) ; chr19:g.41424597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424597T>C , CM000681.2:g.41424597T>C	GRCh38
NC_000019.9:g.41930502T>C , CM000681.1:g.41930502T>C	GRCh37
NC_000019.8:g.46622342T>C	NCBI36
NG_013004.1:g.31809T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1327T>C MANE Select	ENSP00000269980.2:p.Phe443Leu
ENST00000269980.6:c.1327T>C	ENSP00000269980.2:p.Phe443Leu
ENST00000457836.6:c.1336T>C	ENSP00000416000.2:p.Phe446Leu
ENST00000540732.3:c.1429T>C	ENSP00000443246.1:p.Phe477Leu
ENST00000544905.1:c.157T>C
ENST00000595085.5:c.922+1900T>C	ENSP00000471150.2:n.922+1900T>C
NM_000709.3:c.1327T>C	NP_000700.1:p.Phe443Leu
NM_001164783.1:c.1324T>C	NP_001158255.1:p.Phe442Leu
NM_000709.4:c.1327T>C MANE Select	NP_000700.1:p.Phe443Leu
NM_001164783.2:c.1324T>C	NP_001158255.1:p.Phe442Leu