Canonical Allele Identifier: CA406013489

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422742-C-A
• MyVariant Identifiers: chr19:g.41928647C>A (hg19) ; chr19:g.41422742C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422742C>A , CM000681.2:g.41422742C>A	GRCh38
NC_000019.9:g.41928647C>A , CM000681.1:g.41928647C>A	GRCh37
NC_000019.8:g.46620487C>A	NCBI36
NG_013004.1:g.29954C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.967C>A MANE Select	ENSP00000269980.2:p.Pro323Thr
ENST00000269980.6:c.967C>A	ENSP00000269980.2:p.Pro323Thr
ENST00000457836.6:c.901C>A	ENSP00000416000.2:p.Pro301Thr
ENST00000535632.5:n.596C>A
ENST00000540732.3:c.1069C>A	ENSP00000443246.1:p.Pro357Thr
ENST00000542943.5:c.880C>A	ENSP00000440345.1:p.Pro294Thr
ENST00000595085.5:c.922+45C>A	ENSP00000471150.2:n.922+45C>A
NM_000709.3:c.967C>A	NP_000700.1:p.Pro323Thr
NM_001164783.1:c.964C>A	NP_001158255.1:p.Pro322Thr
NM_000709.4:c.967C>A MANE Select	NP_000700.1:p.Pro323Thr
NM_001164783.2:c.964C>A	NP_001158255.1:p.Pro322Thr