Canonical Allele Identifier: CA406015390
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41424505T>C , CM000681.2:g.41424505T>C GRCh38
NC_000019.9:g.41930410T>C , CM000681.1:g.41930410T>C GRCh37
NC_000019.8:g.46622250T>C NCBI36
NG_013004.1:g.31717T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.1235T>C MANE Select ENSP00000269980.2:p.Val412Ala
ENST00000269980.6:c.1235T>C ENSP00000269980.2:p.Val412Ala
ENST00000457836.6:c.1244T>C ENSP00000416000.2:p.Val415Ala
ENST00000540732.3:c.1337T>C ENSP00000443246.1:p.Val446Ala
ENST00000544905.1:c.65T>C
ENST00000595085.5:c.922+1808T>C ENSP00000471150.2:n.922+1808T>C
NM_000709.3:c.1235T>C NP_000700.1:p.Val412Ala
NM_001164783.1:c.1232T>C NP_001158255.1:p.Val411Ala
NM_000709.4:c.1235T>C MANE Select NP_000700.1:p.Val412Ala
NM_001164783.2:c.1232T>C NP_001158255.1:p.Val411Ala