Canonical Allele Identifier: CA399315026

Gene: PGAP3

Linked Data

• dbSNP Id: rs1597810264
• gnomAD v4: 17-39671980-A-C
• MyVariant Identifiers: chr17:g.37828233A>C (hg19) ; chr17:g.39671980A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39671980A>C , CM000679.2:g.39671980A>C	GRCh38
NC_000017.10:g.37828233A>C , CM000679.1:g.37828233A>C	GRCh37
NC_000017.9:g.35081759A>C	NCBI36
NG_034125.1:g.21091T>G
NG_042278.1:g.9000A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*823T>G MANE Select	ENSP00000300658.4:n.*823T>G
ENST00000300658.8:c.*823T>G	ENSP00000300658.4:n.*823T>G
ENST00000309862.10:n.2171T>G
ENST00000378011.8:c.*823T>G	ENSP00000367250.4:n.*823T>G
ENST00000579146.5:c.*872T>G	ENSP00000463234.1:n.*872T>G
ENST00000614824.4:c.*823T>G	ENSP00000480165.1:n.*823T>G
ENST00000619169.4:c.712T>G	ENSP00000478028.1:p.Trp238Gly
NM_001291726.1:c.*823T>G	NP_001278655.1:n.*823T>G
NM_001291728.1:c.*823T>G	NP_001278657.1:n.*823T>G
NM_001291730.1:c.*823T>G	NP_001278659.1:n.*823T>G
NM_001291732.1:c.*823T>G	NP_001278661.1:n.*823T>G
NM_001291733.1:c.*872T>G	NP_001278662.1:n.*872T>G
NM_033419.4:c.*823T>G	NP_219487.3:n.*823T>G
XM_011525480.2:c.*855T>G	XP_011523782.1:n.*855T>G
XM_011525481.2:c.*823T>G	XP_011523783.1:n.*823T>G
XR_002958086.1:n.2313T>G
NM_033419.5:c.*823T>G MANE Select	NP_219487.3:n.*823T>G
NM_001291726.2:c.*823T>G	NP_001278655.1:n.*823T>G
NM_001291728.2:c.*823T>G	NP_001278657.1:n.*823T>G
NM_001291730.2:c.*823T>G	NP_001278659.1:n.*823T>G
NM_001291732.2:c.*823T>G	NP_001278661.1:n.*823T>G
NM_001291733.2:c.*872T>G	NP_001278662.1:n.*872T>G