Canonical Allele Identifier: CA406015250

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930365C>T (hg19) ; chr19:g.41424460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424460C>T , CM000681.2:g.41424460C>T	GRCh38
NC_000019.9:g.41930365C>T , CM000681.1:g.41930365C>T	GRCh37
NC_000019.8:g.46622205C>T	NCBI36
NG_013004.1:g.31672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1190C>T MANE Select	ENSP00000269980.2:p.Ala397Val
ENST00000269980.6:c.1190C>T	ENSP00000269980.2:p.Ala397Val
ENST00000457836.6:c.1199C>T	ENSP00000416000.2:p.Ala400Val
ENST00000540732.3:c.1292C>T	ENSP00000443246.1:p.Ala431Val
ENST00000544905.1:c.62-42C>T
ENST00000595085.5:c.922+1763C>T	ENSP00000471150.2:n.922+1763C>T
NM_000709.3:c.1190C>T	NP_000700.1:p.Ala397Val
NM_001164783.1:c.1187C>T	NP_001158255.1:p.Ala396Val
NM_000709.4:c.1190C>T MANE Select	NP_000700.1:p.Ala397Val
NM_001164783.2:c.1187C>T	NP_001158255.1:p.Ala396Val