Canonical Allele Identifier: CA8533472
Gene: PGAP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2224694
ClinVar RCV Id: RCV002691877
dbSNP Id: rs746846864

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39687867G>A , CM000679.2:g.39687867G>A GRCh38
NC_000017.10:g.37844120G>A , CM000679.1:g.37844120G>A GRCh37
NC_000017.9:g.35097646G>A NCBI36
NG_007503.1:g.4728G>A , LRG_724:g.4728G>A
NG_034125.1:g.5204C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300658.9:c.148C>T MANE Select ENSP00000300658.4:p.Arg50Cys
ENST00000300658.8:c.148C>T ENSP00000300658.4:p.Arg50Cys
ENST00000309862.10:n.191C>T
ENST00000378011.8:c.148C>T ENSP00000367250.4:p.Arg50Cys
ENST00000429199.6:c.148C>T ENSP00000415765.2:p.Arg50Cys
ENST00000579146.5:c.148C>T ENSP00000463234.1:p.Arg50Cys
ENST00000582276.1:n.183C>T
ENST00000584620.5:c.135C>T
ENST00000584856.1:c.-35-1848C>T ENSP00000463785.1:n.-35-1848C>T
ENST00000614824.4:c.148C>T ENSP00000480165.1:p.Arg50Cys
NM_001291726.1:c.148C>T NP_001278655.1:p.Arg50Cys
NM_001291728.1:c.148C>T NP_001278657.1:p.Arg50Cys
NM_001291730.1:c.148C>T NP_001278659.1:p.Arg50Cys
NM_001291732.1:c.148C>T NP_001278661.1:p.Arg50Cys
NM_001291733.1:c.148C>T NP_001278662.1:p.Arg50Cys
NM_033419.4:c.148C>T NP_219487.3:p.Arg50Cys
XM_011525480.1:c.148C>T XP_011523782.1:p.Arg50Cys
XM_011525481.1:c.-340C>T XP_011523783.1:n.-340C>T
XR_934601.1:n.191C>T
XM_011525480.2:c.148C>T XP_011523782.1:p.Arg50Cys
XM_011525481.2:c.-340C>T XP_011523783.1:n.-340C>T
XR_002958086.1:n.191C>T
NM_033419.5:c.148C>T MANE Select NP_219487.3:p.Arg50Cys
NM_001291726.2:c.148C>T NP_001278655.1:p.Arg50Cys
NM_001291728.2:c.148C>T NP_001278657.1:p.Arg50Cys
NM_001291730.2:c.148C>T NP_001278659.1:p.Arg50Cys
NM_001291732.2:c.148C>T NP_001278661.1:p.Arg50Cys
NM_001291733.2:c.148C>T NP_001278662.1:p.Arg50Cys