Canonical Allele Identifier: CA9461149

Gene: BCKDHA

Linked Data

• dbSNP Id: rs779574099
• ExAC: 19:41920028 C / G
• gnomAD v2: 19-41920028-C-G
• gnomAD v4: 19-41414123-C-G
• MyVariant Identifiers: chr19:g.41920028C>G (hg19) ; chr19:g.41414123C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414123C>G , CM000681.2:g.41414123C>G	GRCh38
NC_000019.9:g.41920028C>G , CM000681.1:g.41920028C>G	GRCh37
NC_000019.8:g.46611868C>G	NCBI36
NG_013004.1:g.21335C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.450C>G MANE Select	ENSP00000269980.2:p.Asn150Lys
ENST00000269980.6:c.450C>G	ENSP00000269980.2:p.Asn150Lys
ENST00000457836.6:c.384C>G	ENSP00000416000.2:p.Asn128Lys
ENST00000538423.5:n.576C>G
ENST00000540732.3:c.552C>G	ENSP00000443246.1:p.Asn184Lys
ENST00000541315.1:c.257C>G
ENST00000542943.5:c.363C>G	ENSP00000440345.1:p.Asn121Lys
ENST00000595085.5:c.450C>G	ENSP00000471150.2:p.Asn150Lys
NM_000709.3:c.450C>G	NP_000700.1:p.Asn150Lys
NM_001164783.1:c.450C>G	NP_001158255.1:p.Asn150Lys
NM_000709.4:c.450C>G MANE Select	NP_000700.1:p.Asn150Lys
NM_001164783.2:c.450C>G	NP_001158255.1:p.Asn150Lys