Canonical Allele Identifier: CA406015580

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424556-G-T
• MyVariant Identifiers: chr19:g.41930461G>T (hg19) ; chr19:g.41424556G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424556G>T , CM000681.2:g.41424556G>T	GRCh38
NC_000019.9:g.41930461G>T , CM000681.1:g.41930461G>T	GRCh37
NC_000019.8:g.46622301G>T	NCBI36
NG_013004.1:g.31768G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1286G>T MANE Select	ENSP00000269980.2:p.Arg429Leu
ENST00000269980.6:c.1286G>T	ENSP00000269980.2:p.Arg429Leu
ENST00000457836.6:c.1295G>T	ENSP00000416000.2:p.Arg432Leu
ENST00000540732.3:c.1388G>T	ENSP00000443246.1:p.Arg463Leu
ENST00000544905.1:c.116G>T
ENST00000595085.5:c.922+1859G>T	ENSP00000471150.2:n.922+1859G>T
NM_000709.3:c.1286G>T	NP_000700.1:p.Arg429Leu
NM_001164783.1:c.1283G>T	NP_001158255.1:p.Arg428Leu
NM_000709.4:c.1286G>T MANE Select	NP_000700.1:p.Arg429Leu
NM_001164783.2:c.1283G>T	NP_001158255.1:p.Arg428Leu