Canonical Allele Identifier: CA9461406

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 283770
• ClinVar RCV Id: RCV000373880 ; RCV000908225
• dbSNP Id: rs148090804
• ExAC: 19:41930386 A / G
• gnomAD v2: 19-41930386-A-G
• gnomAD v3: 19-41424481-A-G
• gnomAD v4: 19-41424481-A-G
• MyVariant Identifiers: chr19:g.41930386A>G (hg19) ; chr19:g.41424481A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424481A>G , CM000681.2:g.41424481A>G	GRCh38
NC_000019.9:g.41930386A>G , CM000681.1:g.41930386A>G	GRCh37
NC_000019.8:g.46622226A>G	NCBI36
NG_013004.1:g.31693A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1211A>G MANE Select	ENSP00000269980.2:p.Asn404Ser
ENST00000269980.6:c.1211A>G	ENSP00000269980.2:p.Asn404Ser
ENST00000457836.6:c.1220A>G	ENSP00000416000.2:p.Asn407Ser
ENST00000540732.3:c.1313A>G	ENSP00000443246.1:p.Asn438Ser
ENST00000544905.1:c.62-21A>G
ENST00000595085.5:c.922+1784A>G	ENSP00000471150.2:n.922+1784A>G
NM_000709.3:c.1211A>G	NP_000700.1:p.Asn404Ser
NM_001164783.1:c.1208A>G	NP_001158255.1:p.Asn403Ser
NM_000709.4:c.1211A>G MANE Select	NP_000700.1:p.Asn404Ser
NM_001164783.2:c.1208A>G	NP_001158255.1:p.Asn403Ser