Canonical Allele Identifier: CA406013072

Gene: BCKDHA

Linked Data

• dbSNP Id: rs869312124
• gnomAD v4: 19-41422361-G-A
• COSMIC: COSM3227096
• MyVariant Identifiers: chr19:g.41928266G>A (hg19) ; chr19:g.41422361G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422361G>A , CM000681.2:g.41422361G>A	GRCh38
NC_000019.9:g.41928266G>A , CM000681.1:g.41928266G>A	GRCh37
NC_000019.8:g.46620106G>A	NCBI36
NG_013004.1:g.29573G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.844G>A MANE Select	ENSP00000269980.2:p.Asp282Asn
ENST00000269980.6:c.844G>A	ENSP00000269980.2:p.Asp282Asn
ENST00000457836.6:c.778G>A	ENSP00000416000.2:p.Asp260Asn
ENST00000535632.5:n.473G>A
ENST00000540732.3:c.946G>A	ENSP00000443246.1:p.Asp316Asn
ENST00000542943.5:c.757G>A	ENSP00000440345.1:p.Asp253Asn
ENST00000545787.1:n.472G>A
ENST00000595085.5:c.844G>A	ENSP00000471150.2:p.Asp282Asn
NM_000709.3:c.844G>A	NP_000700.1:p.Asp282Asn
NM_001164783.1:c.844G>A	NP_001158255.1:p.Asp282Asn
NM_000709.4:c.844G>A MANE Select	NP_000700.1:p.Asp282Asn
NM_001164783.2:c.844G>A	NP_001158255.1:p.Asp282Asn