Canonical Allele Identifier: CA406013453

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422727-G-A
• MyVariant Identifiers: chr19:g.41928632G>A (hg19) ; chr19:g.41422727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422727G>A , CM000681.2:g.41422727G>A	GRCh38
NC_000019.9:g.41928632G>A , CM000681.1:g.41928632G>A	GRCh37
NC_000019.8:g.46620472G>A	NCBI36
NG_013004.1:g.29939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.952G>A MANE Select	ENSP00000269980.2:p.Val318Met
ENST00000269980.6:c.952G>A	ENSP00000269980.2:p.Val318Met
ENST00000457836.6:c.886G>A	ENSP00000416000.2:p.Val296Met
ENST00000535632.5:n.581G>A
ENST00000540732.3:c.1054G>A	ENSP00000443246.1:p.Val352Met
ENST00000542943.5:c.865G>A	ENSP00000440345.1:p.Val289Met
ENST00000545787.1:n.580G>A
ENST00000595085.5:c.922+30G>A	ENSP00000471150.2:n.922+30G>A
NM_000709.3:c.952G>A	NP_000700.1:p.Val318Met
NM_001164783.1:c.949G>A	NP_001158255.1:p.Val317Met
NM_000709.4:c.952G>A MANE Select	NP_000700.1:p.Val318Met
NM_001164783.2:c.949G>A	NP_001158255.1:p.Val317Met