Canonical Allele Identifier: CA406013736

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928904A>C (hg19) ; chr19:g.41422999A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422999A>C , CM000681.2:g.41422999A>C	GRCh38
NC_000019.9:g.41928904A>C , CM000681.1:g.41928904A>C	GRCh37
NC_000019.8:g.46620744A>C	NCBI36
NG_013004.1:g.30211A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.997A>C MANE Select	ENSP00000269980.2:p.Ile333Leu
ENST00000269980.6:c.997A>C	ENSP00000269980.2:p.Ile333Leu
ENST00000457836.6:c.1006A>C	ENSP00000416000.2:p.Ile336Leu
ENST00000540732.3:c.1099A>C	ENSP00000443246.1:p.Ile367Leu
ENST00000542943.5:c.910A>C	ENSP00000440345.1:p.Ile304Leu
ENST00000595085.5:c.922+302A>C	ENSP00000471150.2:n.922+302A>C
NM_000709.3:c.997A>C	NP_000700.1:p.Ile333Leu
NM_001164783.1:c.994A>C	NP_001158255.1:p.Ile332Leu
NM_000709.4:c.997A>C MANE Select	NP_000700.1:p.Ile333Leu
NM_001164783.2:c.994A>C	NP_001158255.1:p.Ile332Leu