Canonical Allele Identifier: CA406015160

Gene: BCKDHA

Linked Data

• COSMIC: COSM4665372
• MyVariant Identifiers: chr19:g.41930347T>C (hg19) ; chr19:g.41424442T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424442T>C , CM000681.2:g.41424442T>C	GRCh38
NC_000019.9:g.41930347T>C , CM000681.1:g.41930347T>C	GRCh37
NC_000019.8:g.46622187T>C	NCBI36
NG_013004.1:g.31654T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1172T>C MANE Select	ENSP00000269980.2:p.Met391Thr
ENST00000269980.6:c.1172T>C	ENSP00000269980.2:p.Met391Thr
ENST00000457836.6:c.1181T>C	ENSP00000416000.2:p.Met394Thr
ENST00000540732.3:c.1274T>C	ENSP00000443246.1:p.Met425Thr
ENST00000544905.1:c.62-60T>C
ENST00000595085.5:c.922+1745T>C	ENSP00000471150.2:n.922+1745T>C
NM_000709.3:c.1172T>C	NP_000700.1:p.Met391Thr
NM_001164783.1:c.1169T>C	NP_001158255.1:p.Met390Thr
NM_000709.4:c.1172T>C MANE Select	NP_000700.1:p.Met391Thr
NM_001164783.2:c.1169T>C	NP_001158255.1:p.Met390Thr