Canonical Allele Identifier: CA406012858

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1511580
• ClinVar RCV Id: RCV002043368
• dbSNP Id: rs137852874
• MyVariant Identifiers: chr19:g.41928167G>T (hg19) ; chr19:g.41422262G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422262G>T , CM000681.2:g.41422262G>T	GRCh38
NC_000019.9:g.41928167G>T , CM000681.1:g.41928167G>T	GRCh37
NC_000019.8:g.46620007G>T	NCBI36
NG_013004.1:g.29474G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.745G>T MANE Select	ENSP00000269980.2:p.Gly249Cys
ENST00000269980.6:c.745G>T	ENSP00000269980.2:p.Gly249Cys
ENST00000457836.6:c.679G>T	ENSP00000416000.2:p.Gly227Cys
ENST00000535632.5:n.374G>T
ENST00000540732.3:c.847G>T	ENSP00000443246.1:p.Gly283Cys
ENST00000542943.5:c.658G>T	ENSP00000440345.1:p.Gly220Cys
ENST00000545787.1:n.373G>T
ENST00000595085.5:c.745G>T	ENSP00000471150.2:p.Gly249Cys
NM_000709.3:c.745G>T	NP_000700.1:p.Gly249Cys
NM_001164783.1:c.745G>T	NP_001158255.1:p.Gly249Cys
NM_000709.4:c.745G>T MANE Select	NP_000700.1:p.Gly249Cys
NM_001164783.2:c.745G>T	NP_001158255.1:p.Gly249Cys