Canonical Allele Identifier: CA406012774

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928128T>C (hg19) ; chr19:g.41422223T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422223T>C , CM000681.2:g.41422223T>C	GRCh38
NC_000019.9:g.41928128T>C , CM000681.1:g.41928128T>C	GRCh37
NC_000019.8:g.46619968T>C	NCBI36
NG_013004.1:g.29435T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.706T>C MANE Select	ENSP00000269980.2:p.Phe236Leu
ENST00000269980.6:c.706T>C	ENSP00000269980.2:p.Phe236Leu
ENST00000457836.6:c.640T>C	ENSP00000416000.2:p.Phe214Leu
ENST00000535632.5:n.335T>C
ENST00000540732.3:c.808T>C	ENSP00000443246.1:p.Phe270Leu
ENST00000541315.1:c.606T>C
ENST00000542943.5:c.619T>C	ENSP00000440345.1:p.Phe207Leu
ENST00000545787.1:n.334T>C
ENST00000595085.5:c.706T>C	ENSP00000471150.2:p.Phe236Leu
NM_000709.3:c.706T>C	NP_000700.1:p.Phe236Leu
NM_001164783.1:c.706T>C	NP_001158255.1:p.Phe236Leu
NM_000709.4:c.706T>C MANE Select	NP_000700.1:p.Phe236Leu
NM_001164783.2:c.706T>C	NP_001158255.1:p.Phe236Leu