Canonical Allele Identifier: CA9555087

Gene: DBP

Linked Data

• dbSNP Id: rs763403473
• ExAC: 19:49136715 G / A
• gnomAD v4: 19-48633458-G-A
• MyVariant Identifiers: chr19:g.49136715G>A (hg19) ; chr19:g.48633458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48633458G>A , CM000681.2:g.48633458G>A	GRCh38
NC_000019.9:g.49136715G>A , CM000681.1:g.49136715G>A	GRCh37
NC_000019.8:g.53828527G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222122.10:c.748C>T MANE Select	ENSP00000222122.4:p.Pro250Ser
ENST00000222122.9:c.748C>T	ENSP00000222122.4:p.Pro250Ser
ENST00000593500.1:c.142C>T	ENSP00000471220.1:p.Pro48Ser
ENST00000594723.1:n.2991C>T
ENST00000599385.5:c.142C>T	ENSP00000469426.1:p.Pro48Ser
ENST00000601104.1:c.748C>T	ENSP00000469291.1:p.Pro250Ser
NM_001352.4:c.748C>T	NP_001343.2:p.Pro250Ser
XM_017026388.2:c.319C>T	XP_016881877.1:p.Pro107Ser
XR_243907.4:n.1653C>T
NM_001352.5:c.748C>T MANE Select	NP_001343.2:p.Pro250Ser