Canonical Allele Identifier: CA150829

Gene: PGAP3

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_033419.5:c.914A>G MANE Select	NP_219487.3:p.Asp305Gly
ENST00000300658.9:c.914A>G MANE Select	ENSP00000300658.4:p.Asp305Gly
NM_001291726.1:c.761A>G	NP_001278655.1:p.Asp254Gly
NM_001291726.2:c.761A>G	NP_001278655.1:p.Asp254Gly
NM_001291728.1:c.851A>G	NP_001278657.1:p.Asp284Gly
NM_001291728.2:c.851A>G	NP_001278657.1:p.Asp284Gly
NM_001291730.1:c.572A>G	NP_001278659.1:p.Asp191Gly
NM_001291730.2:c.572A>G	NP_001278659.1:p.Asp191Gly
NM_001291732.1:c.509A>G	NP_001278661.1:p.Asp170Gly
NM_001291732.2:c.509A>G	NP_001278661.1:p.Asp170Gly
NM_001291733.1:c.447A>G	NP_001278662.1:p.Ter149Trp
NM_001291733.2:c.447A>G	NP_001278662.1:p.Ter149Trp
NM_033419.4:c.914A>G	NP_219487.3:p.Asp305Gly
ENST00000300658.8:c.914A>G	ENSP00000300658.4:p.Asp305Gly
ENST00000309862.10:n.1299A>G
ENST00000378011.8:c.761A>G	ENSP00000367250.4:p.Asp254Gly
ENST00000429199.6:c.851A>G	ENSP00000415765.2:p.Asp284Gly
ENST00000579146.5:c.447A>G	ENSP00000463234.1:p.Ter149Trp
ENST00000614824.4:c.911A>G	ENSP00000480165.1:p.Asp304Gly
ENST00000619169.4:c.-161A>G	ENSP00000478028.1:n.-161A>G
XM_011525480.1:c.709A>G	XP_011523782.1:p.Thr237Ala
XM_011525480.2:c.709A>G	XP_011523782.1:p.Thr237Ala
XM_011525481.1:c.569A>G	XP_011523783.1:p.Asp190Gly
XM_011525481.2:c.569A>G	XP_011523783.1:p.Asp190Gly
XR_002958086.1:n.1441A>G