Canonical Allele Identifier: CA406007941

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2266911
• ClinVar RCV Id: RCV002803697
• dbSNP Id: rs2039283788
• gnomAD v4: 19-41414094-C-A
• MyVariant Identifiers: chr19:g.41919999C>A (hg19) ; chr19:g.41414094C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414094C>A , CM000681.2:g.41414094C>A	GRCh38
NC_000019.9:g.41919999C>A , CM000681.1:g.41919999C>A	GRCh37
NC_000019.8:g.46611839C>A	NCBI36
NG_013004.1:g.21306C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.421C>A MANE Select	ENSP00000269980.2:p.His141Asn
ENST00000269980.6:c.421C>A	ENSP00000269980.2:p.His141Asn
ENST00000457836.6:c.355C>A	ENSP00000416000.2:p.His119Asn
ENST00000538423.5:n.547C>A
ENST00000540732.3:c.523C>A	ENSP00000443246.1:p.His175Asn
ENST00000541315.1:c.228C>A
ENST00000542943.5:c.334C>A	ENSP00000440345.1:p.His112Asn
ENST00000595085.5:c.421C>A	ENSP00000471150.2:p.His141Asn
NM_000709.3:c.421C>A	NP_000700.1:p.His141Asn
NM_001164783.1:c.421C>A	NP_001158255.1:p.His141Asn
NM_000709.4:c.421C>A MANE Select	NP_000700.1:p.His141Asn
NM_001164783.2:c.421C>A	NP_001158255.1:p.His141Asn