Canonical Allele Identifier: CA507560713

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930459C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424554C>A , CM000681.2:g.41424554C>A	GRCh38
NC_000019.9:g.41930459C>A , CM000681.1:g.41930459C>A	GRCh37
NC_000019.8:g.46622299C>A	NCBI36
NG_013004.1:g.31766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1284C>A MANE Select	ENSP00000269980.2:p.Ala428=
ENST00000269980.6:c.1284C>A	ENSP00000269980.2:p.Ala428=
ENST00000457836.6:c.1293C>A	ENSP00000416000.2:p.Ala431=
ENST00000540732.3:c.1386C>A	ENSP00000443246.1:p.Ala462=
ENST00000544905.1:c.114C>A
ENST00000595085.5:c.922+1857C>A	ENSP00000471150.2:n.922+1857C>A
NM_000709.3:c.1284C>A	NP_000700.1:p.Ala428=
NM_001164783.1:c.1281C>A	NP_001158255.1:p.Ala427=
NM_000709.4:c.1284C>A MANE Select	NP_000700.1:p.Ala428=
NM_001164783.2:c.1281C>A	NP_001158255.1:p.Ala427=