Canonical Allele Identifier: CA308524778

Gene: BCKDHA

Linked Data

• dbSNP Id: rs868148933
• MyVariant Identifiers: chr19:g.41928594C>T (hg19) ; chr19:g.41422689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422689C>T , CM000681.2:g.41422689C>T	GRCh38
NC_000019.9:g.41928594C>T , CM000681.1:g.41928594C>T	GRCh37
NC_000019.8:g.46620434C>T	NCBI36
NG_013004.1:g.29901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.914C>T MANE Select	ENSP00000269980.2:p.Ala305Val
ENST00000269980.6:c.914C>T	ENSP00000269980.2:p.Ala305Val
ENST00000457836.6:c.848C>T	ENSP00000416000.2:p.Ala283Val
ENST00000535632.5:n.543C>T
ENST00000540732.3:c.1016C>T	ENSP00000443246.1:p.Ala339Val
ENST00000542943.5:c.827C>T	ENSP00000440345.1:p.Ala276Val
ENST00000545787.1:n.542C>T
ENST00000595085.5:c.914C>T	ENSP00000471150.2:p.Ala305Val
NM_000709.3:c.914C>T	NP_000700.1:p.Ala305Val
NM_001164783.1:c.911C>T	NP_001158255.1:p.Ala304Val
NM_000709.4:c.914C>T MANE Select	NP_000700.1:p.Ala305Val
NM_001164783.2:c.911C>T	NP_001158255.1:p.Ala304Val