Canonical Allele Identifier: CA406015543

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930452C>G (hg19) ; chr19:g.41424547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424547C>G , CM000681.2:g.41424547C>G	GRCh38
NC_000019.9:g.41930452C>G , CM000681.1:g.41930452C>G	GRCh37
NC_000019.8:g.46622292C>G	NCBI36
NG_013004.1:g.31759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1277C>G MANE Select	ENSP00000269980.2:p.Ser426Cys
ENST00000269980.6:c.1277C>G	ENSP00000269980.2:p.Ser426Cys
ENST00000457836.6:c.1286C>G	ENSP00000416000.2:p.Ser429Cys
ENST00000540732.3:c.1379C>G	ENSP00000443246.1:p.Ser460Cys
ENST00000544905.1:c.107C>G
ENST00000595085.5:c.922+1850C>G	ENSP00000471150.2:n.922+1850C>G
NM_000709.3:c.1277C>G	NP_000700.1:p.Ser426Cys
NM_001164783.1:c.1274C>G	NP_001158255.1:p.Ser425Cys
NM_000709.4:c.1277C>G MANE Select	NP_000700.1:p.Ser426Cys
NM_001164783.2:c.1274C>G	NP_001158255.1:p.Ser425Cys