Canonical Allele Identifier: CA438716067
Gene: QDPR HGNC NCBI

Linked Data

gnomAD v4: 4-17511995-G-C
MyVariant Identifiers: chr4:g.17513618G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17511995G>C , CM000666.2:g.17511995G>C GRCh38
NC_000004.11:g.17513618G>C , CM000666.1:g.17513618G>C GRCh37
NC_000004.10:g.17122716G>C NCBI36
NG_008763.1:g.5240C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000281243.10:c.60C>G MANE Select ENSP00000281243.5:p.Gly20=
ENST00000281243.9:c.60C>G ENSP00000281243.5:p.Gly20=
ENST00000428702.6:c.60C>G ENSP00000390944.2:p.Gly20=
ENST00000507439.5:c.60C>G ENSP00000423227.1:p.Gly20=
ENST00000508623.5:c.60C>G ENSP00000426377.1:p.Gly20=
ENST00000513615.5:c.60C>G ENSP00000422759.1:p.Gly20=
ENST00000514300.1:c.60C>G ENSP00000426039.1:p.Gly20=
NM_000320.2:c.60C>G NP_000311.2:p.Gly20=
NM_001306140.1:c.60C>G NP_001293069.1:p.Gly20=
XR_241677.1:n.223C>G
NR_156494.1:n.240C>G
NM_000320.3:c.60C>G MANE Select NP_000311.2:p.Gly20=
NM_001306140.2:c.60C>G NP_001293069.1:p.Gly20=
NR_156494.2:n.96C>G