Canonical Allele Identifier: CA406013495

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928651T>G (hg19) ; chr19:g.41422746T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422746T>G , CM000681.2:g.41422746T>G	GRCh38
NC_000019.9:g.41928651T>G , CM000681.1:g.41928651T>G	GRCh37
NC_000019.8:g.46620491T>G	NCBI36
NG_013004.1:g.29958T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.971T>G MANE Select	ENSP00000269980.2:p.Phe324Cys
ENST00000269980.6:c.971T>G	ENSP00000269980.2:p.Phe324Cys
ENST00000457836.6:c.905T>G	ENSP00000416000.2:p.Phe302Cys
ENST00000535632.5:n.600T>G
ENST00000540732.3:c.1073T>G	ENSP00000443246.1:p.Phe358Cys
ENST00000542943.5:c.884T>G	ENSP00000440345.1:p.Phe295Cys
ENST00000595085.5:c.922+49T>G	ENSP00000471150.2:n.922+49T>G
NM_000709.3:c.971T>G	NP_000700.1:p.Phe324Cys
NM_001164783.1:c.968T>G	NP_001158255.1:p.Phe323Cys
NM_000709.4:c.971T>G MANE Select	NP_000700.1:p.Phe324Cys
NM_001164783.2:c.968T>G	NP_001158255.1:p.Phe323Cys