Canonical Allele Identifier: CA406008207

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039284812
• MyVariant Identifiers: chr19:g.41920034C>G (hg19) ; chr19:g.41414129C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414129C>G , CM000681.2:g.41414129C>G	GRCh38
NC_000019.9:g.41920034C>G , CM000681.1:g.41920034C>G	GRCh37
NC_000019.8:g.46611874C>G	NCBI36
NG_013004.1:g.21341C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.456C>G MANE Select	ENSP00000269980.2:p.Asp152Glu
ENST00000269980.6:c.456C>G	ENSP00000269980.2:p.Asp152Glu
ENST00000457836.6:c.390C>G	ENSP00000416000.2:p.Asp130Glu
ENST00000538423.5:n.582C>G
ENST00000540732.3:c.558C>G	ENSP00000443246.1:p.Asp186Glu
ENST00000541315.1:c.263C>G
ENST00000542943.5:c.369C>G	ENSP00000440345.1:p.Asp123Glu
ENST00000595085.5:c.456C>G	ENSP00000471150.2:p.Asp152Glu
NM_000709.3:c.456C>G	NP_000700.1:p.Asp152Glu
NM_001164783.1:c.456C>G	NP_001158255.1:p.Asp152Glu
NM_000709.4:c.456C>G MANE Select	NP_000700.1:p.Asp152Glu
NM_001164783.2:c.456C>G	NP_001158255.1:p.Asp152Glu