Canonical Allele Identifier: CA507558219

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41920061A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414156A>G , CM000681.2:g.41414156A>G	GRCh38
NC_000019.9:g.41920061A>G , CM000681.1:g.41920061A>G	GRCh37
NC_000019.8:g.46611901A>G	NCBI36
NG_013004.1:g.21368A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.483A>G MANE Select	ENSP00000269980.2:p.Ala161=
ENST00000269980.6:c.483A>G	ENSP00000269980.2:p.Ala161=
ENST00000457836.6:c.417A>G	ENSP00000416000.2:p.Ala139=
ENST00000538423.5:n.609A>G
ENST00000540732.3:c.585A>G	ENSP00000443246.1:p.Ala195=
ENST00000541315.1:c.290A>G
ENST00000542943.5:c.396A>G	ENSP00000440345.1:p.Ala132=
ENST00000595085.5:c.483A>G	ENSP00000471150.2:p.Ala161=
NM_000709.3:c.483A>G	NP_000700.1:p.Ala161=
NM_001164783.1:c.483A>G	NP_001158255.1:p.Ala161=
NM_000709.4:c.483A>G MANE Select	NP_000700.1:p.Ala161=
NM_001164783.2:c.483A>G	NP_001158255.1:p.Ala161=