Canonical Allele Identifier: CA406714531

Gene: DBP

Linked Data

• MyVariant Identifiers: chr19:g.49136734C>A (hg19) ; chr19:g.48633477C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48633477C>A , CM000681.2:g.48633477C>A	GRCh38
NC_000019.9:g.49136734C>A , CM000681.1:g.49136734C>A	GRCh37
NC_000019.8:g.53828546C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222122.10:c.729G>T MANE Select	ENSP00000222122.4:p.Lys243Asn
ENST00000222122.9:c.729G>T	ENSP00000222122.4:p.Lys243Asn
ENST00000593500.1:c.123G>T	ENSP00000471220.1:p.Lys41Asn
ENST00000594723.1:n.2972G>T
ENST00000599385.5:c.123G>T	ENSP00000469426.1:p.Lys41Asn
ENST00000601104.1:c.729G>T	ENSP00000469291.1:p.Lys243Asn
NM_001352.4:c.729G>T	NP_001343.2:p.Lys243Asn
XM_017026388.2:c.300G>T	XP_016881877.1:p.Lys100Asn
XR_243907.4:n.1634G>T
NM_001352.5:c.729G>T MANE Select	NP_001343.2:p.Lys243Asn