Canonical Allele Identifier: CA406013774
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41423014A>T , CM000681.2:g.41423014A>T GRCh38
NC_000019.9:g.41928919A>T , CM000681.1:g.41928919A>T GRCh37
NC_000019.8:g.46620759A>T NCBI36
NG_013004.1:g.30226A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1012A>T MANE Select ENSP00000269980.2:p.Thr338Ser
ENST00000269980.6:c.1012A>T ENSP00000269980.2:p.Thr338Ser
ENST00000457836.6:c.1021A>T ENSP00000416000.2:p.Thr341Ser
ENST00000540732.3:c.1114A>T ENSP00000443246.1:p.Thr372Ser
ENST00000542943.5:c.925A>T ENSP00000440345.1:p.Thr309Ser
ENST00000595085.5:c.922+317A>T ENSP00000471150.2:n.922+317A>T
NM_000709.3:c.1012A>T NP_000700.1:p.Thr338Ser
NM_001164783.1:c.1009A>T NP_001158255.1:p.Thr337Ser
NM_000709.4:c.1012A>T MANE Select NP_000700.1:p.Thr338Ser
NM_001164783.2:c.1009A>T NP_001158255.1:p.Thr337Ser