Canonical Allele Identifier: CA406015403

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424511-A-G
• MyVariant Identifiers: chr19:g.41930416A>G (hg19) ; chr19:g.41424511A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424511A>G , CM000681.2:g.41424511A>G	GRCh38
NC_000019.9:g.41930416A>G , CM000681.1:g.41930416A>G	GRCh37
NC_000019.8:g.46622256A>G	NCBI36
NG_013004.1:g.31723A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1241A>G MANE Select	ENSP00000269980.2:p.Gln414Arg
ENST00000269980.6:c.1241A>G	ENSP00000269980.2:p.Gln414Arg
ENST00000457836.6:c.1250A>G	ENSP00000416000.2:p.Gln417Arg
ENST00000540732.3:c.1343A>G	ENSP00000443246.1:p.Gln448Arg
ENST00000544905.1:c.71A>G
ENST00000595085.5:c.922+1814A>G	ENSP00000471150.2:n.922+1814A>G
NM_000709.3:c.1241A>G	NP_000700.1:p.Gln414Arg
NM_001164783.1:c.1238A>G	NP_001158255.1:p.Gln413Arg
NM_000709.4:c.1241A>G MANE Select	NP_000700.1:p.Gln414Arg
NM_001164783.2:c.1238A>G	NP_001158255.1:p.Gln413Arg