Canonical Allele Identifier: CA406012675

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928077G>A (hg19) ; chr19:g.41422172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422172G>A , CM000681.2:g.41422172G>A	GRCh38
NC_000019.9:g.41928077G>A , CM000681.1:g.41928077G>A	GRCh37
NC_000019.8:g.46619917G>A	NCBI36
NG_013004.1:g.29384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.655G>A MANE Select	ENSP00000269980.2:p.Ala219Thr
ENST00000269980.6:c.655G>A	ENSP00000269980.2:p.Ala219Thr
ENST00000457836.6:c.589G>A	ENSP00000416000.2:p.Ala197Thr
ENST00000535632.5:n.284G>A
ENST00000538423.5:n.781G>A
ENST00000540732.3:c.757G>A	ENSP00000443246.1:p.Ala253Thr
ENST00000541315.1:c.555G>A
ENST00000542943.5:c.568G>A	ENSP00000440345.1:p.Ala190Thr
ENST00000545787.1:n.283G>A
ENST00000595085.5:c.655G>A	ENSP00000471150.2:p.Ala219Thr
NM_000709.3:c.655G>A	NP_000700.1:p.Ala219Thr
NM_001164783.1:c.655G>A	NP_001158255.1:p.Ala219Thr
NM_000709.4:c.655G>A MANE Select	NP_000700.1:p.Ala219Thr
NM_001164783.2:c.655G>A	NP_001158255.1:p.Ala219Thr