Canonical Allele Identifier: CA406015387

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930409G>C (hg19) ; chr19:g.41424504G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424504G>C , CM000681.2:g.41424504G>C	GRCh38
NC_000019.9:g.41930409G>C , CM000681.1:g.41930409G>C	GRCh37
NC_000019.8:g.46622249G>C	NCBI36
NG_013004.1:g.31716G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1234G>C MANE Select	ENSP00000269980.2:p.Val412Leu
ENST00000269980.6:c.1234G>C	ENSP00000269980.2:p.Val412Leu
ENST00000457836.6:c.1243G>C	ENSP00000416000.2:p.Val415Leu
ENST00000540732.3:c.1336G>C	ENSP00000443246.1:p.Val446Leu
ENST00000544905.1:c.64G>C
ENST00000595085.5:c.922+1807G>C	ENSP00000471150.2:n.922+1807G>C
NM_000709.3:c.1234G>C	NP_000700.1:p.Val412Leu
NM_001164783.1:c.1231G>C	NP_001158255.1:p.Val411Leu
NM_000709.4:c.1234G>C MANE Select	NP_000700.1:p.Val412Leu
NM_001164783.2:c.1231G>C	NP_001158255.1:p.Val411Leu