Canonical Allele Identifier: CA406015372

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930403T>A (hg19) ; chr19:g.41424498T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424498T>A , CM000681.2:g.41424498T>A	GRCh38
NC_000019.9:g.41930403T>A , CM000681.1:g.41930403T>A	GRCh37
NC_000019.8:g.46622243T>A	NCBI36
NG_013004.1:g.31710T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1228T>A MANE Select	ENSP00000269980.2:p.Ser410Thr
ENST00000269980.6:c.1228T>A	ENSP00000269980.2:p.Ser410Thr
ENST00000457836.6:c.1237T>A	ENSP00000416000.2:p.Ser413Thr
ENST00000540732.3:c.1330T>A	ENSP00000443246.1:p.Ser444Thr
ENST00000544905.1:c.62-4T>A
ENST00000595085.5:c.922+1801T>A	ENSP00000471150.2:n.922+1801T>A
NM_000709.3:c.1228T>A	NP_000700.1:p.Ser410Thr
NM_001164783.1:c.1225T>A	NP_001158255.1:p.Ser409Thr
NM_000709.4:c.1228T>A MANE Select	NP_000700.1:p.Ser410Thr
NM_001164783.2:c.1225T>A	NP_001158255.1:p.Ser409Thr