Canonical Allele Identifier: CA406004638
Gene: BCKDHA HGNC NCBI

Linked Data

dbSNP Id: rs775471043

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410687G>T , CM000681.2:g.41410687G>T GRCh38
NC_000019.9:g.41916592G>T , CM000681.1:g.41916592G>T GRCh37
NC_000019.8:g.46608432G>T NCBI36
NG_013004.1:g.17899G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.159G>T MANE Select ENSP00000269980.2:p.Gln53His
ENST00000269980.6:c.159G>T ENSP00000269980.2:p.Gln53His
ENST00000457836.6:c.93G>T ENSP00000416000.2:p.Gln31His
ENST00000538423.5:n.179G>T
ENST00000540732.3:c.261G>T ENSP00000443246.1:p.Gln87His
ENST00000542943.5:c.159G>T ENSP00000440345.1:p.Gln53His
ENST00000595085.5:c.159G>T ENSP00000471150.2:p.Gln53His
ENST00000604424.1:n.401G>T
NM_000709.3:c.159G>T NP_000700.1:p.Gln53His
NM_001164783.1:c.159G>T NP_001158255.1:p.Gln53His
NM_000709.4:c.159G>T MANE Select NP_000700.1:p.Gln53His
NM_001164783.2:c.159G>T NP_001158255.1:p.Gln53His