Canonical Allele Identifier: CA791239701

Gene: QDPR

Linked Data

• dbSNP Id: rs781735204
• gnomAD v3: 4-17511916-G-A
• gnomAD v4: 4-17511916-G-A
• MyVariant Identifiers: chr4:g.17513539G>A (hg19) ; chr4:g.17511916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511916G>A , CM000666.2:g.17511916G>A	GRCh38
NC_000004.11:g.17513539G>A , CM000666.1:g.17513539G>A	GRCh37
NC_000004.10:g.17122637G>A	NCBI36
NG_008763.1:g.5319C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.105+34C>T MANE Select	ENSP00000281243.5:n.105+34C>T
ENST00000281243.9:c.105+34C>T	ENSP00000281243.5:n.105+34C>T
ENST00000428702.6:c.105+34C>T	ENSP00000390944.2:n.105+34C>T
ENST00000505710.1:c.32+34C>T
ENST00000507439.5:c.105+34C>T	ENSP00000423227.1:n.105+34C>T
ENST00000508623.5:c.105+34C>T	ENSP00000426377.1:n.105+34C>T
ENST00000513615.5:c.105+34C>T	ENSP00000422759.1:n.105+34C>T
ENST00000514300.1:c.105+34C>T	ENSP00000426039.1:n.105+34C>T
NM_000320.2:c.105+34C>T	NP_000311.2:n.105+34C>T
NM_001306140.1:c.105+34C>T	NP_001293069.1:n.105+34C>T
XR_241677.1:n.268+34C>T
NR_156494.1:n.285+34C>T
NM_000320.3:c.105+34C>T MANE Select	NP_000311.2:n.105+34C>T
NM_001306140.2:c.105+34C>T	NP_001293069.1:n.105+34C>T
NR_156494.2:n.141+34C>T