Canonical Allele Identifier: CA507560656

Gene: BCKDHA

Linked Data

• dbSNP Id: rs374403946
• MyVariant Identifiers: chr19:g.41930366C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424461C>G , CM000681.2:g.41424461C>G	GRCh38
NC_000019.9:g.41930366C>G , CM000681.1:g.41930366C>G	GRCh37
NC_000019.8:g.46622206C>G	NCBI36
NG_013004.1:g.31673C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1191C>G MANE Select	ENSP00000269980.2:p.Ala397=
ENST00000269980.6:c.1191C>G	ENSP00000269980.2:p.Ala397=
ENST00000457836.6:c.1200C>G	ENSP00000416000.2:p.Ala400=
ENST00000540732.3:c.1293C>G	ENSP00000443246.1:p.Ala431=
ENST00000544905.1:c.62-41C>G
ENST00000595085.5:c.922+1764C>G	ENSP00000471150.2:n.922+1764C>G
NM_000709.3:c.1191C>G	NP_000700.1:p.Ala397=
NM_001164783.1:c.1188C>G	NP_001158255.1:p.Ala396=
NM_000709.4:c.1191C>G MANE Select	NP_000700.1:p.Ala397=
NM_001164783.2:c.1188C>G	NP_001158255.1:p.Ala396=