Canonical Allele Identifier: CA92601982

Gene: QDPR

Linked Data

• dbSNP Id: rs546958366
• gnomAD v2: 4-17505875-G-A
• gnomAD v3: 4-17504252-G-A
• gnomAD v4: 4-17504252-G-A
• MyVariant Identifiers: chr4:g.17505875G>A (hg19) ; chr4:g.17504252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504252G>A , CM000666.2:g.17504252G>A	GRCh38
NC_000004.11:g.17505875G>A , CM000666.1:g.17505875G>A	GRCh37
NC_000004.10:g.17114973G>A	NCBI36
NG_008763.1:g.12983C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1342+127C>T
ENST00000281243.10:c.295+127C>T MANE Select	ENSP00000281243.5:n.295+127C>T
ENST00000281243.9:c.295+127C>T	ENSP00000281243.5:n.295+127C>T
ENST00000428702.6:c.202+127C>T	ENSP00000390944.2:n.202+127C>T
ENST00000505710.1:c.222+127C>T
ENST00000507439.5:c.295+127C>T	ENSP00000423227.1:n.295+127C>T
ENST00000508623.5:c.295+127C>T	ENSP00000426377.1:n.295+127C>T
ENST00000513615.5:c.295+127C>T	ENSP00000422759.1:n.295+127C>T
ENST00000514300.1:c.*226+127C>T	ENSP00000426039.1:n.*226+127C>T
NM_000320.2:c.295+127C>T	NP_000311.2:n.295+127C>T
NM_001306140.1:c.202+127C>T	NP_001293069.1:n.202+127C>T
XR_241677.1:n.458+127C>T
NR_156494.1:n.475+127C>T
NM_000320.3:c.295+127C>T MANE Select	NP_000311.2:n.295+127C>T
NM_001306140.2:c.202+127C>T	NP_001293069.1:n.202+127C>T
NR_156494.2:n.331+127C>T