Canonical Allele Identifier: CA507557896

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414114C>G , CM000681.2:g.41414114C>G	GRCh38
NC_000019.9:g.41920019C>G , CM000681.1:g.41920019C>G	GRCh37
NC_000019.8:g.46611859C>G	NCBI36
NG_013004.1:g.21326C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.441C>G MANE Select	NP_000700.1:p.Ala147=
ENST00000269980.7:c.441C>G MANE Select	ENSP00000269980.2:p.Ala147=
NM_000709.3:c.441C>G	NP_000700.1:p.Ala147=
NM_001164783.1:c.441C>G	NP_001158255.1:p.Ala147=
NM_001164783.2:c.441C>G	NP_001158255.1:p.Ala147=
ENST00000269980.6:c.441C>G	ENSP00000269980.2:p.Ala147=
ENST00000457836.6:c.375C>G	ENSP00000416000.2:p.Ala125=
ENST00000538423.5:n.567C>G
ENST00000540732.3:c.543C>G	ENSP00000443246.1:p.Ala181=
ENST00000541315.1:c.248C>G
ENST00000542943.5:c.354C>G	ENSP00000440345.1:p.Ala118=
ENST00000595085.5:c.441C>G	ENSP00000471150.2:p.Ala147=