Canonical Allele Identifier: CA308524255

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1685253
• ClinVar RCV Id: RCV002248980
• dbSNP Id: rs887411374
• MyVariant Identifiers: chr19:g.41928165C>T (hg19) ; chr19:g.41422260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422260C>T , CM000681.2:g.41422260C>T	GRCh38
NC_000019.9:g.41928165C>T , CM000681.1:g.41928165C>T	GRCh37
NC_000019.8:g.46620005C>T	NCBI36
NG_013004.1:g.29472C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.743C>T MANE Select	ENSP00000269980.2:p.Ala248Val
ENST00000269980.6:c.743C>T	ENSP00000269980.2:p.Ala248Val
ENST00000457836.6:c.677C>T	ENSP00000416000.2:p.Ala226Val
ENST00000535632.5:n.372C>T
ENST00000540732.3:c.845C>T	ENSP00000443246.1:p.Ala282Val
ENST00000542943.5:c.656C>T	ENSP00000440345.1:p.Ala219Val
ENST00000545787.1:n.371C>T
ENST00000595085.5:c.743C>T	ENSP00000471150.2:p.Ala248Val
NM_000709.3:c.743C>T	NP_000700.1:p.Ala248Val
NM_001164783.1:c.743C>T	NP_001158255.1:p.Ala248Val
NM_000709.4:c.743C>T MANE Select	NP_000700.1:p.Ala248Val
NM_001164783.2:c.743C>T	NP_001158255.1:p.Ala248Val