Canonical Allele Identifier: CA221224

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93377
• ClinVar RCV Id: RCV000179780 ; RCV001283857
• dbSNP Id: rs398123509
• gnomAD v4: 19-41422680-A-C
• MyVariant Identifiers: chr19:g.41928585A>C (hg19) ; chr19:g.41422680A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422680A>C , CM000681.2:g.41422680A>C	GRCh38
NC_000019.9:g.41928585A>C , CM000681.1:g.41928585A>C	GRCh37
NC_000019.8:g.46620425A>C	NCBI36
NG_013004.1:g.29892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.905A>C MANE Select	ENSP00000269980.2:p.Asp302Ala
ENST00000269980.6:c.905A>C	ENSP00000269980.2:p.Asp302Ala
ENST00000457836.6:c.839A>C	ENSP00000416000.2:p.Asp280Ala
ENST00000535632.5:n.534A>C
ENST00000540732.3:c.1007A>C	ENSP00000443246.1:p.Asp336Ala
ENST00000542943.5:c.818A>C	ENSP00000440345.1:p.Asp273Ala
ENST00000545787.1:n.533A>C
ENST00000595085.5:c.905A>C	ENSP00000471150.2:p.Asp302Ala
NM_000709.3:c.905A>C	NP_000700.1:p.Asp302Ala
NM_001164783.1:c.902A>C	NP_001158255.1:p.Asp301Ala
NM_000709.4:c.905A>C MANE Select	NP_000700.1:p.Asp302Ala
NM_001164783.2:c.902A>C	NP_001158255.1:p.Asp301Ala