Canonical Allele Identifier: CA308524156

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1040238997
• MyVariant Identifiers: chr19:g.41928136G>C (hg19) ; chr19:g.41422231G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422231G>C , CM000681.2:g.41422231G>C	GRCh38
NC_000019.9:g.41928136G>C , CM000681.1:g.41928136G>C	GRCh37
NC_000019.8:g.46619976G>C	NCBI36
NG_013004.1:g.29443G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.714G>C MANE Select	ENSP00000269980.2:p.Glu238Asp
ENST00000269980.6:c.714G>C	ENSP00000269980.2:p.Glu238Asp
ENST00000457836.6:c.648G>C	ENSP00000416000.2:p.Glu216Asp
ENST00000535632.5:n.343G>C
ENST00000540732.3:c.816G>C	ENSP00000443246.1:p.Glu272Asp
ENST00000541315.1:c.614G>C
ENST00000542943.5:c.627G>C	ENSP00000440345.1:p.Glu209Asp
ENST00000545787.1:n.342G>C
ENST00000595085.5:c.714G>C	ENSP00000471150.2:p.Glu238Asp
NM_000709.3:c.714G>C	NP_000700.1:p.Glu238Asp
NM_001164783.1:c.714G>C	NP_001158255.1:p.Glu238Asp
NM_000709.4:c.714G>C MANE Select	NP_000700.1:p.Glu238Asp
NM_001164783.2:c.714G>C	NP_001158255.1:p.Glu238Asp