Canonical Allele Identifier: CA406012731
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422203A>C , CM000681.2:g.41422203A>C GRCh38
NC_000019.9:g.41928108A>C , CM000681.1:g.41928108A>C GRCh37
NC_000019.8:g.46619948A>C NCBI36
NG_013004.1:g.29415A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.686A>C MANE Select ENSP00000269980.2:p.Asn229Thr
ENST00000269980.6:c.686A>C ENSP00000269980.2:p.Asn229Thr
ENST00000457836.6:c.620A>C ENSP00000416000.2:p.Asn207Thr
ENST00000535632.5:n.315A>C
ENST00000538423.5:n.812A>C
ENST00000540732.3:c.788A>C ENSP00000443246.1:p.Asn263Thr
ENST00000541315.1:c.586A>C
ENST00000542943.5:c.599A>C ENSP00000440345.1:p.Asn200Thr
ENST00000545787.1:n.314A>C
ENST00000595085.5:c.686A>C ENSP00000471150.2:p.Asn229Thr
NM_000709.3:c.686A>C NP_000700.1:p.Asn229Thr
NM_001164783.1:c.686A>C NP_001158255.1:p.Asn229Thr
NM_000709.4:c.686A>C MANE Select NP_000700.1:p.Asn229Thr
NM_001164783.2:c.686A>C NP_001158255.1:p.Asn229Thr