Canonical Allele Identifier: CA996613948

Gene: DBP

Linked Data

• dbSNP Id: rs2030667642
• gnomAD v3: 19-48633401-A-C
• gnomAD v4: 19-48633401-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48633401A>C , CM000681.2:g.48633401A>C	GRCh38
NC_000019.9:g.49136658A>C , CM000681.1:g.49136658A>C	GRCh37
NC_000019.8:g.53828470A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222122.10:c.762+43T>G MANE Select	ENSP00000222122.4:n.762+43T>G
ENST00000222122.9:c.762+43T>G	ENSP00000222122.4:n.762+43T>G
ENST00000593500.1:c.156+43T>G	ENSP00000471220.1:n.156+43T>G
ENST00000594723.1:n.3048T>G
ENST00000599385.5:c.156+43T>G	ENSP00000469426.1:n.156+43T>G
ENST00000601104.1:c.*16T>G	ENSP00000469291.1:n.*16T>G
NM_001352.4:c.762+43T>G	NP_001343.2:n.762+43T>G
XM_017026388.2:c.333+43T>G	XP_016881877.1:n.333+43T>G
XR_243907.4:n.1667+43T>G
NM_001352.5:c.762+43T>G MANE Select	NP_001343.2:n.762+43T>G