Canonical Allele Identifier: CA406012867

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928171T>C (hg19) ; chr19:g.41422266T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422266T>C , CM000681.2:g.41422266T>C	GRCh38
NC_000019.9:g.41928171T>C , CM000681.1:g.41928171T>C	GRCh37
NC_000019.8:g.46620011T>C	NCBI36
NG_013004.1:g.29478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.749T>C MANE Select	ENSP00000269980.2:p.Phe250Ser
ENST00000269980.6:c.749T>C	ENSP00000269980.2:p.Phe250Ser
ENST00000457836.6:c.683T>C	ENSP00000416000.2:p.Phe228Ser
ENST00000535632.5:n.378T>C
ENST00000540732.3:c.851T>C	ENSP00000443246.1:p.Phe284Ser
ENST00000542943.5:c.662T>C	ENSP00000440345.1:p.Phe221Ser
ENST00000545787.1:n.377T>C
ENST00000595085.5:c.749T>C	ENSP00000471150.2:p.Phe250Ser
NM_000709.3:c.749T>C	NP_000700.1:p.Phe250Ser
NM_001164783.1:c.749T>C	NP_001158255.1:p.Phe250Ser
NM_000709.4:c.749T>C MANE Select	NP_000700.1:p.Phe250Ser
NM_001164783.2:c.749T>C	NP_001158255.1:p.Phe250Ser