Canonical Allele Identifier: CA406714476

Gene: DBP

Linked Data

• gnomAD v4: 19-48633452-C-T
• MyVariant Identifiers: chr19:g.49136709C>T (hg19) ; chr19:g.48633452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48633452C>T , CM000681.2:g.48633452C>T	GRCh38
NC_000019.9:g.49136709C>T , CM000681.1:g.49136709C>T	GRCh37
NC_000019.8:g.53828521C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222122.10:c.754G>A MANE Select	ENSP00000222122.4:p.Glu252Lys
ENST00000222122.9:c.754G>A	ENSP00000222122.4:p.Glu252Lys
ENST00000593500.1:c.148G>A	ENSP00000471220.1:p.Glu50Lys
ENST00000594723.1:n.2997G>A
ENST00000599385.5:c.148G>A	ENSP00000469426.1:p.Glu50Lys
ENST00000601104.1:c.754G>A	ENSP00000469291.1:p.Glu252Lys
NM_001352.4:c.754G>A	NP_001343.2:p.Glu252Lys
XM_017026388.2:c.325G>A	XP_016881877.1:p.Glu109Lys
XR_243907.4:n.1659G>A
NM_001352.5:c.754G>A MANE Select	NP_001343.2:p.Glu252Lys