Canonical Allele Identifier: CA9555073

Gene: DBP

Linked Data

• dbSNP Id: rs752536143
• ExAC: 19:49136654 G / C
• gnomAD v2: 19-49136654-G-C
• gnomAD v3: 19-48633397-G-C
• gnomAD v4: 19-48633397-G-C
• MyVariant Identifiers: chr19:g.49136654G>C (hg19) ; chr19:g.48633397G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48633397G>C , CM000681.2:g.48633397G>C	GRCh38
NC_000019.9:g.49136654G>C , CM000681.1:g.49136654G>C	GRCh37
NC_000019.8:g.53828466G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000222122.10:c.762+47C>G MANE Select	ENSP00000222122.4:n.762+47C>G
ENST00000222122.9:c.762+47C>G	ENSP00000222122.4:n.762+47C>G
ENST00000593500.1:c.156+47C>G	ENSP00000471220.1:n.156+47C>G
ENST00000594723.1:n.3052C>G
ENST00000599385.5:c.156+47C>G	ENSP00000469426.1:n.156+47C>G
ENST00000601104.1:c.*20C>G	ENSP00000469291.1:n.*20C>G
NM_001352.4:c.762+47C>G	NP_001343.2:n.762+47C>G
XM_017026388.2:c.333+47C>G	XP_016881877.1:n.333+47C>G
XR_243907.4:n.1667+47C>G
NM_001352.5:c.762+47C>G MANE Select	NP_001343.2:n.762+47C>G