Canonical Allele Identifier: CA8533474

Gene: PGAP3

Linked Data

• dbSNP Id: rs776488270
• ExAC: 17:37844131 A / C
• gnomAD v2: 17-37844131-A-C
• gnomAD v3: 17-39687878-A-C
• gnomAD v4: 17-39687878-A-C
• MyVariant Identifiers: chr17:g.37844131A>C (hg19) ; chr17:g.39687878A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39687878A>C , CM000679.2:g.39687878A>C	GRCh38
NC_000017.10:g.37844131A>C , CM000679.1:g.37844131A>C	GRCh37
NC_000017.9:g.35097657A>C	NCBI36
NG_007503.1:g.4739A>C , LRG_724:g.4739A>C
NG_034125.1:g.5193T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.137T>G MANE Select	ENSP00000300658.4:p.Leu46Arg
ENST00000300658.8:c.137T>G	ENSP00000300658.4:p.Leu46Arg
ENST00000309862.10:n.180T>G
ENST00000378011.8:c.137T>G	ENSP00000367250.4:p.Leu46Arg
ENST00000429199.6:c.137T>G	ENSP00000415765.2:p.Leu46Arg
ENST00000579146.5:c.137T>G	ENSP00000463234.1:p.Leu46Arg
ENST00000582276.1:n.172T>G
ENST00000584620.5:c.124T>G
ENST00000584856.1:c.-35-1859T>G	ENSP00000463785.1:n.-35-1859T>G
ENST00000614824.4:c.137T>G	ENSP00000480165.1:p.Leu46Arg
NM_001291726.1:c.137T>G	NP_001278655.1:p.Leu46Arg
NM_001291728.1:c.137T>G	NP_001278657.1:p.Leu46Arg
NM_001291730.1:c.137T>G	NP_001278659.1:p.Leu46Arg
NM_001291732.1:c.137T>G	NP_001278661.1:p.Leu46Arg
NM_001291733.1:c.137T>G	NP_001278662.1:p.Leu46Arg
NM_033419.4:c.137T>G	NP_219487.3:p.Leu46Arg
XM_011525480.1:c.137T>G	XP_011523782.1:p.Leu46Arg
XM_011525481.1:c.-351T>G	XP_011523783.1:n.-351T>G
XR_934601.1:n.180T>G
XM_011525480.2:c.137T>G	XP_011523782.1:p.Leu46Arg
XM_011525481.2:c.-351T>G	XP_011523783.1:n.-351T>G
XR_002958086.1:n.180T>G
NM_033419.5:c.137T>G MANE Select	NP_219487.3:p.Leu46Arg
NM_001291726.2:c.137T>G	NP_001278655.1:p.Leu46Arg
NM_001291728.2:c.137T>G	NP_001278657.1:p.Leu46Arg
NM_001291730.2:c.137T>G	NP_001278659.1:p.Leu46Arg
NM_001291732.2:c.137T>G	NP_001278661.1:p.Leu46Arg
NM_001291733.2:c.137T>G	NP_001278662.1:p.Leu46Arg