Canonical Allele Identifier: CA9461431

Gene: BCKDHA

Linked Data

• dbSNP Id: rs779279955
• ExAC: 19:41930499 C / G
• gnomAD v2: 19-41930499-C-G
• MyVariant Identifiers: chr19:g.41930499C>G (hg19) ; chr19:g.41424594C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424594C>G , CM000681.2:g.41424594C>G	GRCh38
NC_000019.9:g.41930499C>G , CM000681.1:g.41930499C>G	GRCh37
NC_000019.8:g.46622339C>G	NCBI36
NG_013004.1:g.31806C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1324C>G MANE Select	ENSP00000269980.2:p.His442Asp
ENST00000269980.6:c.1324C>G	ENSP00000269980.2:p.His442Asp
ENST00000457836.6:c.1333C>G	ENSP00000416000.2:p.His445Asp
ENST00000540732.3:c.1426C>G	ENSP00000443246.1:p.His476Asp
ENST00000544905.1:c.154C>G
ENST00000595085.5:c.922+1897C>G	ENSP00000471150.2:n.922+1897C>G
NM_000709.3:c.1324C>G	NP_000700.1:p.His442Asp
NM_001164783.1:c.1321C>G	NP_001158255.1:p.His441Asp
NM_000709.4:c.1324C>G MANE Select	NP_000700.1:p.His442Asp
NM_001164783.2:c.1321C>G	NP_001158255.1:p.His441Asp