Canonical Allele Identifier: CA406013741

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928905T>C (hg19) ; chr19:g.41423000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423000T>C , CM000681.2:g.41423000T>C	GRCh38
NC_000019.9:g.41928905T>C , CM000681.1:g.41928905T>C	GRCh37
NC_000019.8:g.46620745T>C	NCBI36
NG_013004.1:g.30212T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.998T>C MANE Select	ENSP00000269980.2:p.Ile333Thr
ENST00000269980.6:c.998T>C	ENSP00000269980.2:p.Ile333Thr
ENST00000457836.6:c.1007T>C	ENSP00000416000.2:p.Ile336Thr
ENST00000540732.3:c.1100T>C	ENSP00000443246.1:p.Ile367Thr
ENST00000542943.5:c.911T>C	ENSP00000440345.1:p.Ile304Thr
ENST00000595085.5:c.922+303T>C	ENSP00000471150.2:n.922+303T>C
NM_000709.3:c.998T>C	NP_000700.1:p.Ile333Thr
NM_001164783.1:c.995T>C	NP_001158255.1:p.Ile332Thr
NM_000709.4:c.998T>C MANE Select	NP_000700.1:p.Ile333Thr
NM_001164783.2:c.995T>C	NP_001158255.1:p.Ile332Thr