Canonical Allele Identifier: CA406013767
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41423011A>T , CM000681.2:g.41423011A>T GRCh38
NC_000019.9:g.41928916A>T , CM000681.1:g.41928916A>T GRCh37
NC_000019.8:g.46620756A>T NCBI36
NG_013004.1:g.30223A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1009A>T MANE Select ENSP00000269980.2:p.Ser337Cys
ENST00000269980.6:c.1009A>T ENSP00000269980.2:p.Ser337Cys
ENST00000457836.6:c.1018A>T ENSP00000416000.2:p.Ser340Cys
ENST00000540732.3:c.1111A>T ENSP00000443246.1:p.Ser371Cys
ENST00000542943.5:c.922A>T ENSP00000440345.1:p.Ser308Cys
ENST00000595085.5:c.922+314A>T ENSP00000471150.2:n.922+314A>T
NM_000709.3:c.1009A>T NP_000700.1:p.Ser337Cys
NM_001164783.1:c.1006A>T NP_001158255.1:p.Ser336Cys
NM_000709.4:c.1009A>T MANE Select NP_000700.1:p.Ser337Cys
NM_001164783.2:c.1006A>T NP_001158255.1:p.Ser336Cys