Canonical Allele Identifier: CA2259204175
Gene: PGAP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39672285C= , CM000679.2:g.39672285C= GRCh38
NC_000017.10:g.37828538C= , CM000679.1:g.37828538C= GRCh37
NC_000017.9:g.35082064C= NCBI36
NG_034125.1:g.20786G=
NG_042278.1:g.9305C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000300658.9:c.*518G= MANE Select ENSP00000300658.4:n.*518G=
ENST00000300658.8:c.*518G= ENSP00000300658.4:n.*518G=
ENST00000309862.10:n.1866G=
ENST00000378011.8:c.*518G= ENSP00000367250.4:n.*518G=
ENST00000579146.5:c.*567G= ENSP00000463234.1:n.*567G=
ENST00000614824.4:c.*518G= ENSP00000480165.1:n.*518G=
ENST00000619169.4:c.407G= ENSP00000478028.1:p.Arg136=
NM_001291726.1:c.*518G= NP_001278655.1:n.*518G=
NM_001291728.1:c.*518G= NP_001278657.1:n.*518G=
NM_001291730.1:c.*518G= NP_001278659.1:n.*518G=
NM_001291732.1:c.*518G= NP_001278661.1:n.*518G=
NM_001291733.1:c.*567G= NP_001278662.1:n.*567G=
NM_033419.4:c.*518G= NP_219487.3:n.*518G=
XM_011525481.1:c.*518G= XP_011523783.1:n.*518G=
XM_011525480.2:c.*550G= XP_011523782.1:n.*550G=
XM_011525481.2:c.*518G= XP_011523783.1:n.*518G=
XR_002958086.1:n.2008G=
NM_033419.5:c.*518G= MANE Select NP_219487.3:n.*518G=
NM_001291726.2:c.*518G= NP_001278655.1:n.*518G=
NM_001291728.2:c.*518G= NP_001278657.1:n.*518G=
NM_001291730.2:c.*518G= NP_001278659.1:n.*518G=
NM_001291732.2:c.*518G= NP_001278661.1:n.*518G=
NM_001291733.2:c.*567G= NP_001278662.1:n.*567G=