Canonical Allele Identifier: CA406714486
Gene: DBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48633455C>T , CM000681.2:g.48633455C>T GRCh38
NC_000019.9:g.49136712C>T , CM000681.1:g.49136712C>T GRCh37
NC_000019.8:g.53828524C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000222122.10:c.751G>A MANE Select ENSP00000222122.4:p.Glu251Lys
ENST00000222122.9:c.751G>A ENSP00000222122.4:p.Glu251Lys
ENST00000593500.1:c.145G>A ENSP00000471220.1:p.Glu49Lys
ENST00000594723.1:n.2994G>A
ENST00000599385.5:c.145G>A ENSP00000469426.1:p.Glu49Lys
ENST00000601104.1:c.751G>A ENSP00000469291.1:p.Glu251Lys
NM_001352.4:c.751G>A NP_001343.2:p.Glu251Lys
XM_017026388.2:c.322G>A XP_016881877.1:p.Glu108Lys
XR_243907.4:n.1656G>A
NM_001352.5:c.751G>A MANE Select NP_001343.2:p.Glu251Lys