Canonical Allele Identifier: CA351384

Gene: PGAP3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39673660C>T , CM000679.2:g.39673660C>T	GRCh38
NC_000017.10:g.37829913C>T , CM000679.1:g.37829913C>T	GRCh37
NC_000017.9:g.35083439C>T	NCBI36
NG_034125.1:g.19411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.558-10G>A MANE Select	ENSP00000300658.4:n.558-10G>A
ENST00000300658.8:c.558-10G>A	ENSP00000300658.4:n.558-10G>A
ENST00000309862.10:n.933G>A
ENST00000378011.8:c.405-10G>A	ENSP00000367250.4:n.405-10G>A
ENST00000429199.6:c.495-10G>A	ENSP00000415765.2:n.495-10G>A
ENST00000577337.5:c.370-10G>A	ENSP00000464308.1:n.370-10G>A
ENST00000579146.5:c.433-794G>A	ENSP00000463234.1:n.433-794G>A
ENST00000580898.5:n.435-10G>A
ENST00000614824.4:c.557-10G>A	ENSP00000480165.1:n.557-10G>A
ENST00000619169.4:c.-381+333G>A	ENSP00000478028.1:n.-381+333G>A
NM_001291726.1:c.405-10G>A	NP_001278655.1:n.405-10G>A
NM_001291728.1:c.495-10G>A	NP_001278657.1:n.495-10G>A
NM_001291730.1:c.557+333G>A	NP_001278659.1:n.557+333G>A
NM_001291732.1:c.494+333G>A	NP_001278661.1:n.494+333G>A
NM_001291733.1:c.433-794G>A	NP_001278662.1:n.433-794G>A
NM_033419.4:c.558-10G>A	NP_219487.3:n.558-10G>A
XM_011525480.1:c.558-10G>A	XP_011523782.1:n.558-10G>A
XM_011525481.1:c.213-10G>A	XP_011523783.1:n.213-10G>A
XR_934601.1:n.743-10G>A
XM_011525480.2:c.558-10G>A	XP_011523782.1:n.558-10G>A
XM_011525481.2:c.213-10G>A	XP_011523783.1:n.213-10G>A
XR_002958086.1:n.1075G>A
NM_033419.5:c.558-10G>A MANE Select	NP_219487.3:n.558-10G>A
NM_001291726.2:c.405-10G>A	NP_001278655.1:n.405-10G>A
NM_001291728.2:c.495-10G>A	NP_001278657.1:n.495-10G>A
NM_001291730.2:c.557+333G>A	NP_001278659.1:n.557+333G>A
NM_001291732.2:c.494+333G>A	NP_001278661.1:n.494+333G>A
NM_001291733.2:c.433-794G>A	NP_001278662.1:n.433-794G>A