Canonical Allele Identifier: CA507558182

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1164011666
• gnomAD v2: 19-41920058-G-A
• gnomAD v4: 19-41414153-G-A
• MyVariant Identifiers: chr19:g.41920058G>A (hg19) ; chr19:g.41414153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414153G>A , CM000681.2:g.41414153G>A	GRCh38
NC_000019.9:g.41920058G>A , CM000681.1:g.41920058G>A	GRCh37
NC_000019.8:g.46611898G>A	NCBI36
NG_013004.1:g.21365G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.480G>A MANE Select	ENSP00000269980.2:p.Glu160=
ENST00000269980.6:c.480G>A	ENSP00000269980.2:p.Glu160=
ENST00000457836.6:c.414G>A	ENSP00000416000.2:p.Glu138=
ENST00000538423.5:n.606G>A
ENST00000540732.3:c.582G>A	ENSP00000443246.1:p.Glu194=
ENST00000541315.1:c.287G>A
ENST00000542943.5:c.393G>A	ENSP00000440345.1:p.Glu131=
ENST00000595085.5:c.480G>A	ENSP00000471150.2:p.Glu160=
NM_000709.3:c.480G>A	NP_000700.1:p.Glu160=
NM_001164783.1:c.480G>A	NP_001158255.1:p.Glu160=
NM_000709.4:c.480G>A MANE Select	NP_000700.1:p.Glu160=
NM_001164783.2:c.480G>A	NP_001158255.1:p.Glu160=