Canonical Allele Identifier: CA507560688

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930417G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424512G>A , CM000681.2:g.41424512G>A	GRCh38
NC_000019.9:g.41930417G>A , CM000681.1:g.41930417G>A	GRCh37
NC_000019.8:g.46622257G>A	NCBI36
NG_013004.1:g.31724G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1242G>A MANE Select	ENSP00000269980.2:p.Gln414=
ENST00000269980.6:c.1242G>A	ENSP00000269980.2:p.Gln414=
ENST00000457836.6:c.1251G>A	ENSP00000416000.2:p.Gln417=
ENST00000540732.3:c.1344G>A	ENSP00000443246.1:p.Gln448=
ENST00000544905.1:c.72G>A
ENST00000595085.5:c.922+1815G>A	ENSP00000471150.2:n.922+1815G>A
NM_000709.3:c.1242G>A	NP_000700.1:p.Gln414=
NM_001164783.1:c.1239G>A	NP_001158255.1:p.Gln413=
NM_000709.4:c.1242G>A MANE Select	NP_000700.1:p.Gln414=
NM_001164783.2:c.1239G>A	NP_001158255.1:p.Gln413=