Canonical Allele Identifier: CA406015411

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2122150843
• MyVariant Identifiers: chr19:g.41930419A>T (hg19) ; chr19:g.41424514A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424514A>T , CM000681.2:g.41424514A>T	GRCh38
NC_000019.9:g.41930419A>T , CM000681.1:g.41930419A>T	GRCh37
NC_000019.8:g.46622259A>T	NCBI36
NG_013004.1:g.31726A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1244A>T MANE Select	ENSP00000269980.2:p.Glu415Val
ENST00000269980.6:c.1244A>T	ENSP00000269980.2:p.Glu415Val
ENST00000457836.6:c.1253A>T	ENSP00000416000.2:p.Glu418Val
ENST00000540732.3:c.1346A>T	ENSP00000443246.1:p.Glu449Val
ENST00000544905.1:c.74A>T
ENST00000595085.5:c.922+1817A>T	ENSP00000471150.2:n.922+1817A>T
NM_000709.3:c.1244A>T	NP_000700.1:p.Glu415Val
NM_001164783.1:c.1241A>T	NP_001158255.1:p.Glu414Val
NM_000709.4:c.1244A>T MANE Select	NP_000700.1:p.Glu415Val
NM_001164783.2:c.1241A>T	NP_001158255.1:p.Glu414Val