Canonical Allele Identifier: CA406012821

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1459508985
• gnomAD v2: 19-41928150-A-C
• gnomAD v4: 19-41422245-A-C
• MyVariant Identifiers: chr19:g.41928150A>C (hg19) ; chr19:g.41422245A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422245A>C , CM000681.2:g.41422245A>C	GRCh38
NC_000019.9:g.41928150A>C , CM000681.1:g.41928150A>C	GRCh37
NC_000019.8:g.46619990A>C	NCBI36
NG_013004.1:g.29457A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.728A>C MANE Select	ENSP00000269980.2:p.Glu243Ala
ENST00000269980.6:c.728A>C	ENSP00000269980.2:p.Glu243Ala
ENST00000457836.6:c.662A>C	ENSP00000416000.2:p.Glu221Ala
ENST00000535632.5:n.357A>C
ENST00000540732.3:c.830A>C	ENSP00000443246.1:p.Glu277Ala
ENST00000541315.1:c.628A>C
ENST00000542943.5:c.641A>C	ENSP00000440345.1:p.Glu214Ala
ENST00000545787.1:n.356A>C
ENST00000595085.5:c.728A>C	ENSP00000471150.2:p.Glu243Ala
NM_000709.3:c.728A>C	NP_000700.1:p.Glu243Ala
NM_001164783.1:c.728A>C	NP_001158255.1:p.Glu243Ala
NM_000709.4:c.728A>C MANE Select	NP_000700.1:p.Glu243Ala
NM_001164783.2:c.728A>C	NP_001158255.1:p.Glu243Ala