Canonical Allele Identifier: CA438716086
Gene: QDPR HGNC NCBI

Linked Data

gnomAD v4: 4-17512007-G-A
MyVariant Identifiers: chr4:g.17513630G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17512007G>A , CM000666.2:g.17512007G>A GRCh38
NC_000004.11:g.17513630G>A , CM000666.1:g.17513630G>A GRCh37
NC_000004.10:g.17122728G>A NCBI36
NG_008763.1:g.5228C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000281243.10:c.48C>T MANE Select ENSP00000281243.5:p.Tyr16=
ENST00000281243.9:c.48C>T ENSP00000281243.5:p.Tyr16=
ENST00000428702.6:c.48C>T ENSP00000390944.2:p.Tyr16=
ENST00000507439.5:c.48C>T ENSP00000423227.1:p.Tyr16=
ENST00000508623.5:c.48C>T ENSP00000426377.1:p.Tyr16=
ENST00000513615.5:c.48C>T ENSP00000422759.1:p.Tyr16=
ENST00000514300.1:c.48C>T ENSP00000426039.1:p.Tyr16=
NM_000320.2:c.48C>T NP_000311.2:p.Tyr16=
NM_001306140.1:c.48C>T NP_001293069.1:p.Tyr16=
XR_241677.1:n.211C>T
NR_156494.1:n.228C>T
NM_000320.3:c.48C>T MANE Select NP_000311.2:p.Tyr16=
NM_001306140.2:c.48C>T NP_001293069.1:p.Tyr16=
NR_156494.2:n.84C>T