Canonical Allele Identifier: CA406013480

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928644C>A (hg19) ; chr19:g.41422739C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422739C>A , CM000681.2:g.41422739C>A	GRCh38
NC_000019.9:g.41928644C>A , CM000681.1:g.41928644C>A	GRCh37
NC_000019.8:g.46620484C>A	NCBI36
NG_013004.1:g.29951C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.964C>A MANE Select	ENSP00000269980.2:p.Gln322Lys
ENST00000269980.6:c.964C>A	ENSP00000269980.2:p.Gln322Lys
ENST00000457836.6:c.898C>A	ENSP00000416000.2:p.Gln300Lys
ENST00000535632.5:n.593C>A
ENST00000540732.3:c.1066C>A	ENSP00000443246.1:p.Gln356Lys
ENST00000542943.5:c.877C>A	ENSP00000440345.1:p.Gln293Lys
ENST00000595085.5:c.922+42C>A	ENSP00000471150.2:n.922+42C>A
NM_000709.3:c.964C>A	NP_000700.1:p.Gln322Lys
NM_001164783.1:c.961C>A	NP_001158255.1:p.Gln321Lys
NM_000709.4:c.964C>A MANE Select	NP_000700.1:p.Gln322Lys
NM_001164783.2:c.961C>A	NP_001158255.1:p.Gln321Lys