Canonical Allele Identifier: CA507560670

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41930390C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424485C>G , CM000681.2:g.41424485C>G	GRCh38
NC_000019.9:g.41930390C>G , CM000681.1:g.41930390C>G	GRCh37
NC_000019.8:g.46622230C>G	NCBI36
NG_013004.1:g.31697C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1215C>G MANE Select	ENSP00000269980.2:p.Pro405=
ENST00000269980.6:c.1215C>G	ENSP00000269980.2:p.Pro405=
ENST00000457836.6:c.1224C>G	ENSP00000416000.2:p.Pro408=
ENST00000540732.3:c.1317C>G	ENSP00000443246.1:p.Pro439=
ENST00000544905.1:c.62-17C>G
ENST00000595085.5:c.922+1788C>G	ENSP00000471150.2:n.922+1788C>G
NM_000709.3:c.1215C>G	NP_000700.1:p.Pro405=
NM_001164783.1:c.1212C>G	NP_001158255.1:p.Pro404=
NM_000709.4:c.1215C>G MANE Select	NP_000700.1:p.Pro405=
NM_001164783.2:c.1212C>G	NP_001158255.1:p.Pro404=