Canonical Allele Identifier: CA406714542

Gene: DBP

Linked Data

• MyVariant Identifiers: chr19:g.49136738T>G (hg19) ; chr19:g.48633481T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48633481T>G , CM000681.2:g.48633481T>G	GRCh38
NC_000019.9:g.49136738T>G , CM000681.1:g.49136738T>G	GRCh37
NC_000019.8:g.53828550T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222122.10:c.725A>C MANE Select	ENSP00000222122.4:p.Lys242Thr
ENST00000222122.9:c.725A>C	ENSP00000222122.4:p.Lys242Thr
ENST00000593500.1:c.119A>C	ENSP00000471220.1:p.Lys40Thr
ENST00000594723.1:n.2968A>C
ENST00000599385.5:c.119A>C	ENSP00000469426.1:p.Lys40Thr
ENST00000601104.1:c.725A>C	ENSP00000469291.1:p.Lys242Thr
NM_001352.4:c.725A>C	NP_001343.2:p.Lys242Thr
XM_017026388.2:c.296A>C	XP_016881877.1:p.Lys99Thr
XR_243907.4:n.1630A>C
NM_001352.5:c.725A>C MANE Select	NP_001343.2:p.Lys242Thr