Canonical Allele Identifier: CA406012853

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928164G>A (hg19) ; chr19:g.41422259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422259G>A , CM000681.2:g.41422259G>A	GRCh38
NC_000019.9:g.41928164G>A , CM000681.1:g.41928164G>A	GRCh37
NC_000019.8:g.46620004G>A	NCBI36
NG_013004.1:g.29471G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.742G>A MANE Select	ENSP00000269980.2:p.Ala248Thr
ENST00000269980.6:c.742G>A	ENSP00000269980.2:p.Ala248Thr
ENST00000457836.6:c.676G>A	ENSP00000416000.2:p.Ala226Thr
ENST00000535632.5:n.371G>A
ENST00000540732.3:c.844G>A	ENSP00000443246.1:p.Ala282Thr
ENST00000542943.5:c.655G>A	ENSP00000440345.1:p.Ala219Thr
ENST00000545787.1:n.370G>A
ENST00000595085.5:c.742G>A	ENSP00000471150.2:p.Ala248Thr
NM_000709.3:c.742G>A	NP_000700.1:p.Ala248Thr
NM_001164783.1:c.742G>A	NP_001158255.1:p.Ala248Thr
NM_000709.4:c.742G>A MANE Select	NP_000700.1:p.Ala248Thr
NM_001164783.2:c.742G>A	NP_001158255.1:p.Ala248Thr