Canonical Allele Identifier: CA399315044

Gene: PGAP3

Linked Data

• dbSNP Id: rs1403739553
• gnomAD v2: 17-37828241-C-A
• gnomAD v3: 17-39671988-C-A
• gnomAD v4: 17-39671988-C-A
• MyVariant Identifiers: chr17:g.37828241C>A (hg19) ; chr17:g.39671988C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39671988C>A , CM000679.2:g.39671988C>A	GRCh38
NC_000017.10:g.37828241C>A , CM000679.1:g.37828241C>A	GRCh37
NC_000017.9:g.35081767C>A	NCBI36
NG_034125.1:g.21083G>T
NG_042278.1:g.9008C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*815G>T MANE Select	ENSP00000300658.4:n.*815G>T
ENST00000300658.8:c.*815G>T	ENSP00000300658.4:n.*815G>T
ENST00000309862.10:n.2163G>T
ENST00000378011.8:c.*815G>T	ENSP00000367250.4:n.*815G>T
ENST00000579146.5:c.*864G>T	ENSP00000463234.1:n.*864G>T
ENST00000614824.4:c.*815G>T	ENSP00000480165.1:n.*815G>T
ENST00000619169.4:c.704G>T	ENSP00000478028.1:p.Cys235Phe
NM_001291726.1:c.*815G>T	NP_001278655.1:n.*815G>T
NM_001291728.1:c.*815G>T	NP_001278657.1:n.*815G>T
NM_001291730.1:c.*815G>T	NP_001278659.1:n.*815G>T
NM_001291732.1:c.*815G>T	NP_001278661.1:n.*815G>T
NM_001291733.1:c.*864G>T	NP_001278662.1:n.*864G>T
NM_033419.4:c.*815G>T	NP_219487.3:n.*815G>T
XM_011525480.2:c.*847G>T	XP_011523782.1:n.*847G>T
XM_011525481.2:c.*815G>T	XP_011523783.1:n.*815G>T
XR_002958086.1:n.2305G>T
NM_033419.5:c.*815G>T MANE Select	NP_219487.3:n.*815G>T
NM_001291726.2:c.*815G>T	NP_001278655.1:n.*815G>T
NM_001291728.2:c.*815G>T	NP_001278657.1:n.*815G>T
NM_001291730.2:c.*815G>T	NP_001278659.1:n.*815G>T
NM_001291732.2:c.*815G>T	NP_001278661.1:n.*815G>T
NM_001291733.2:c.*864G>T	NP_001278662.1:n.*864G>T