Canonical Allele Identifier: CA9461409
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs372425217

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424499C>T , CM000681.2:g.41424499C>T GRCh38
NC_000019.9:g.41930404C>T , CM000681.1:g.41930404C>T GRCh37
NC_000019.8:g.46622244C>T NCBI36
NG_013004.1:g.31711C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1229C>T MANE Select ENSP00000269980.2:p.Ser410Leu
ENST00000269980.6:c.1229C>T ENSP00000269980.2:p.Ser410Leu
ENST00000457836.6:c.1238C>T ENSP00000416000.2:p.Ser413Leu
ENST00000540732.3:c.1331C>T ENSP00000443246.1:p.Ser444Leu
ENST00000544905.1:c.62-3C>T
ENST00000595085.5:c.922+1802C>T ENSP00000471150.2:n.922+1802C>T
NM_000709.3:c.1229C>T NP_000700.1:p.Ser410Leu
NM_001164783.1:c.1226C>T NP_001158255.1:p.Ser409Leu
NM_000709.4:c.1229C>T MANE Select NP_000700.1:p.Ser410Leu
NM_001164783.2:c.1226C>T NP_001158255.1:p.Ser409Leu