Canonical Allele Identifier: CA356450295
Gene: QDPR HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.17506028C>T (hg19) chr4:g.17504405C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17504405C>T , CM000666.2:g.17504405C>T GRCh38
NC_000004.11:g.17506028C>T , CM000666.1:g.17506028C>T GRCh37
NC_000004.10:g.17115126C>T NCBI36
NG_008763.1:g.12830G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000706645.1:n.1316G>A
ENST00000281243.10:c.269G>A MANE Select ENSP00000281243.5:p.Trp90Ter
ENST00000281243.9:c.269G>A ENSP00000281243.5:p.Trp90Ter
ENST00000428702.6:c.176G>A ENSP00000390944.2:p.Trp59Ter
ENST00000505710.1:c.196G>A
ENST00000507439.5:c.269G>A ENSP00000423227.1:p.Trp90Ter
ENST00000508623.5:c.269G>A ENSP00000426377.1:p.Trp90Ter
ENST00000513615.5:c.269G>A ENSP00000422759.1:p.Trp90Ter
ENST00000514300.1:c.*200G>A ENSP00000426039.1:n.*200G>A
NM_000320.2:c.269G>A NP_000311.2:p.Trp90Ter
NM_001306140.1:c.176G>A NP_001293069.1:p.Trp59Ter
XR_241677.1:n.432G>A
NR_156494.1:n.449G>A
NM_000320.3:c.269G>A MANE Select NP_000311.2:p.Trp90Ter
NM_001306140.2:c.176G>A NP_001293069.1:p.Trp59Ter
NR_156494.2:n.305G>A
Search 100 bp 5'
Search 100 bp 3'