Canonical Allele Identifier: CA2259204069
Community Standard Title: NM_033419.5(PGAP3):c.914A= (p.Asp305=)
Gene: PGAP3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39672852T= , CM000679.2:g.39672852T= GRCh38
NC_000017.10:g.37829105T= , CM000679.1:g.37829105T= GRCh37
NC_000017.9:g.35082631T= NCBI36
NG_034125.1:g.20219A=

Transcript Alleles

HGVS Amino-acid Change
NM_033419.5:c.914A= MANE Select NP_219487.3:p.Asp305=
ENST00000300658.9:c.914A= MANE Select ENSP00000300658.4:p.Asp305=
NM_001291726.1:c.761A= NP_001278655.1:p.Asp254=
NM_001291726.2:c.761A= NP_001278655.1:p.Asp254=
NM_001291728.1:c.851A= NP_001278657.1:p.Asp284=
NM_001291728.2:c.851A= NP_001278657.1:p.Asp284=
NM_001291730.1:c.572A= NP_001278659.1:p.Asp191=
NM_001291730.2:c.572A= NP_001278659.1:p.Asp191=
NM_001291732.1:c.509A= NP_001278661.1:p.Asp170=
NM_001291732.2:c.509A= NP_001278661.1:p.Asp170=
NM_001291733.1:c.447A= NP_001278662.1:p.Ter149=
NM_001291733.2:c.447A= NP_001278662.1:p.Ter149=
NM_033419.4:c.914A= NP_219487.3:p.Asp305=
ENST00000300658.8:c.914A= ENSP00000300658.4:p.Asp305=
ENST00000309862.10:n.1299A=
ENST00000378011.8:c.761A= ENSP00000367250.4:p.Asp254=
ENST00000429199.6:c.851A= ENSP00000415765.2:p.Asp284=
ENST00000579146.5:c.447A= ENSP00000463234.1:p.Ter149=
ENST00000614824.4:c.911A= ENSP00000480165.1:p.Asp304=
ENST00000619169.4:c.-161A= ENSP00000478028.1:n.-161A=
XM_011525480.1:c.709A= XP_011523782.1:p.Thr237=
XM_011525480.2:c.709A= XP_011523782.1:p.Thr237=
XM_011525481.1:c.569A= XP_011523783.1:p.Asp190=
XM_011525481.2:c.569A= XP_011523783.1:p.Asp190=
XR_002958086.1:n.1441A=