Canonical Allele Identifier: CA406714419

Gene: DBP

Linked Data

• dbSNP Id: rs2030668940
• gnomAD v3: 19-48633427-C-A
• gnomAD v4: 19-48633427-C-A
• MyVariant Identifiers: chr19:g.49136684C>A (hg19) ; chr19:g.48633427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48633427C>A , CM000681.2:g.48633427C>A	GRCh38
NC_000019.9:g.49136684C>A , CM000681.1:g.49136684C>A	GRCh37
NC_000019.8:g.53828496C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222122.10:c.762+17G>T MANE Select	ENSP00000222122.4:n.762+17G>T
ENST00000222122.9:c.762+17G>T	ENSP00000222122.4:n.762+17G>T
ENST00000593500.1:c.156+17G>T	ENSP00000471220.1:n.156+17G>T
ENST00000594723.1:n.3022G>T
ENST00000599385.5:c.156+17G>T	ENSP00000469426.1:n.156+17G>T
ENST00000601104.1:c.779G>T	ENSP00000469291.1:p.Cys260Phe
NM_001352.4:c.762+17G>T	NP_001343.2:n.762+17G>T
XM_017026388.2:c.333+17G>T	XP_016881877.1:n.333+17G>T
XR_243907.4:n.1667+17G>T
NM_001352.5:c.762+17G>T MANE Select	NP_001343.2:n.762+17G>T