Canonical Allele Identifier: CA9461419

Gene: BCKDHA

Linked Data

• dbSNP Id: rs141991700
• ExAC: 19:41930445 C / A
• gnomAD v4: 19-41424540-C-A
• MyVariant Identifiers: chr19:g.41930445C>A (hg19) ; chr19:g.41424540C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424540C>A , CM000681.2:g.41424540C>A	GRCh38
NC_000019.9:g.41930445C>A , CM000681.1:g.41930445C>A	GRCh37
NC_000019.8:g.46622285C>A	NCBI36
NG_013004.1:g.31752C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1270C>A MANE Select	ENSP00000269980.2:p.Gln424Lys
ENST00000269980.6:c.1270C>A	ENSP00000269980.2:p.Gln424Lys
ENST00000457836.6:c.1279C>A	ENSP00000416000.2:p.Gln427Lys
ENST00000540732.3:c.1372C>A	ENSP00000443246.1:p.Gln458Lys
ENST00000544905.1:c.100C>A
ENST00000595085.5:c.922+1843C>A	ENSP00000471150.2:n.922+1843C>A
NM_000709.3:c.1270C>A	NP_000700.1:p.Gln424Lys
NM_001164783.1:c.1267C>A	NP_001158255.1:p.Gln423Lys
NM_000709.4:c.1270C>A MANE Select	NP_000700.1:p.Gln424Lys
NM_001164783.2:c.1267C>A	NP_001158255.1:p.Gln423Lys