Canonical Allele Identifier: CA406013545

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928672A>T (hg19) ; chr19:g.41422767A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422767A>T , CM000681.2:g.41422767A>T	GRCh38
NC_000019.9:g.41928672A>T , CM000681.1:g.41928672A>T	GRCh37
NC_000019.8:g.46620512A>T	NCBI36
NG_013004.1:g.29979A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.992A>T MANE Select	ENSP00000269980.2:p.Tyr331Phe
ENST00000269980.6:c.992A>T	ENSP00000269980.2:p.Tyr331Phe
ENST00000457836.6:c.926A>T	ENSP00000416000.2:p.Tyr309Phe
ENST00000540732.3:c.1094A>T	ENSP00000443246.1:p.Tyr365Phe
ENST00000542943.5:c.905A>T	ENSP00000440345.1:p.Tyr302Phe
ENST00000595085.5:c.922+70A>T	ENSP00000471150.2:n.922+70A>T
NM_000709.3:c.992A>T	NP_000700.1:p.Tyr331Phe
NM_001164783.1:c.989A>T	NP_001158255.1:p.Tyr330Phe
NM_000709.4:c.992A>T MANE Select	NP_000700.1:p.Tyr331Phe
NM_001164783.2:c.989A>T	NP_001158255.1:p.Tyr330Phe