Canonical Allele Identifier: CA406012676

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928078C>G (hg19) ; chr19:g.41422173C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422173C>G , CM000681.2:g.41422173C>G	GRCh38
NC_000019.9:g.41928078C>G , CM000681.1:g.41928078C>G	GRCh37
NC_000019.8:g.46619918C>G	NCBI36
NG_013004.1:g.29385C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.656C>G MANE Select	ENSP00000269980.2:p.Ala219Gly
ENST00000269980.6:c.656C>G	ENSP00000269980.2:p.Ala219Gly
ENST00000457836.6:c.590C>G	ENSP00000416000.2:p.Ala197Gly
ENST00000535632.5:n.285C>G
ENST00000538423.5:n.782C>G
ENST00000540732.3:c.758C>G	ENSP00000443246.1:p.Ala253Gly
ENST00000541315.1:c.556C>G
ENST00000542943.5:c.569C>G	ENSP00000440345.1:p.Ala190Gly
ENST00000545787.1:n.284C>G
ENST00000595085.5:c.656C>G	ENSP00000471150.2:p.Ala219Gly
NM_000709.3:c.656C>G	NP_000700.1:p.Ala219Gly
NM_001164783.1:c.656C>G	NP_001158255.1:p.Ala219Gly
NM_000709.4:c.656C>G MANE Select	NP_000700.1:p.Ala219Gly
NM_001164783.2:c.656C>G	NP_001158255.1:p.Ala219Gly