Canonical Allele Identifier: CA2868235

Gene: QDPR

Linked Data

• dbSNP Id: rs374627229
• ExAC: 4:17513543 A / G
• gnomAD v2: 4-17513543-A-G
• gnomAD v3: 4-17511920-A-G
• gnomAD v4: 4-17511920-A-G
• MyVariant Identifiers: chr4:g.17513543A>G (hg19) ; chr4:g.17511920A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511920A>G , CM000666.2:g.17511920A>G	GRCh38
NC_000004.11:g.17513543A>G , CM000666.1:g.17513543A>G	GRCh37
NC_000004.10:g.17122641A>G	NCBI36
NG_008763.1:g.5315T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.105+30T>C MANE Select	ENSP00000281243.5:n.105+30T>C
ENST00000281243.9:c.105+30T>C	ENSP00000281243.5:n.105+30T>C
ENST00000428702.6:c.105+30T>C	ENSP00000390944.2:n.105+30T>C
ENST00000505710.1:c.32+30T>C
ENST00000507439.5:c.105+30T>C	ENSP00000423227.1:n.105+30T>C
ENST00000508623.5:c.105+30T>C	ENSP00000426377.1:n.105+30T>C
ENST00000513615.5:c.105+30T>C	ENSP00000422759.1:n.105+30T>C
ENST00000514300.1:c.105+30T>C	ENSP00000426039.1:n.105+30T>C
NM_000320.2:c.105+30T>C	NP_000311.2:n.105+30T>C
NM_001306140.1:c.105+30T>C	NP_001293069.1:n.105+30T>C
XR_241677.1:n.268+30T>C
NR_156494.1:n.285+30T>C
NM_000320.3:c.105+30T>C MANE Select	NP_000311.2:n.105+30T>C
NM_001306140.2:c.105+30T>C	NP_001293069.1:n.105+30T>C
NR_156494.2:n.141+30T>C