Canonical Allele Identifier: CA406013533

Gene: BCKDHA

Linked Data

• COSMIC: COSM1750924
• MyVariant Identifiers: chr19:g.41928667G>A (hg19) ; chr19:g.41422762G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422762G>A , CM000681.2:g.41422762G>A	GRCh38
NC_000019.9:g.41928667G>A , CM000681.1:g.41928667G>A	GRCh37
NC_000019.8:g.46620507G>A	NCBI36
NG_013004.1:g.29974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.987G>A MANE Select	ENSP00000269980.2:p.Met329Ile
ENST00000269980.6:c.987G>A	ENSP00000269980.2:p.Met329Ile
ENST00000457836.6:c.921G>A	ENSP00000416000.2:p.Met307Ile
ENST00000540732.3:c.1089G>A	ENSP00000443246.1:p.Met363Ile
ENST00000542943.5:c.900G>A	ENSP00000440345.1:p.Met300Ile
ENST00000595085.5:c.922+65G>A	ENSP00000471150.2:n.922+65G>A
NM_000709.3:c.987G>A	NP_000700.1:p.Met329Ile
NM_001164783.1:c.984G>A	NP_001158255.1:p.Met328Ile
NM_000709.4:c.987G>A MANE Select	NP_000700.1:p.Met329Ile
NM_001164783.2:c.984G>A	NP_001158255.1:p.Met328Ile