Canonical Allele Identifier: CA399317453

Gene: PGAP3

Linked Data

• dbSNP Id: rs2057315538
• gnomAD v4: 17-39672247-C-T
• MyVariant Identifiers: chr17:g.37828500C>T (hg19) ; chr17:g.39672247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39672247C>T , CM000679.2:g.39672247C>T	GRCh38
NC_000017.10:g.37828500C>T , CM000679.1:g.37828500C>T	GRCh37
NC_000017.9:g.35082026C>T	NCBI36
NG_034125.1:g.20824G>A
NG_042278.1:g.9267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.*556G>A MANE Select	ENSP00000300658.4:n.*556G>A
ENST00000300658.8:c.*556G>A	ENSP00000300658.4:n.*556G>A
ENST00000309862.10:n.1904G>A
ENST00000378011.8:c.*556G>A	ENSP00000367250.4:n.*556G>A
ENST00000579146.5:c.*605G>A	ENSP00000463234.1:n.*605G>A
ENST00000614824.4:c.*556G>A	ENSP00000480165.1:n.*556G>A
ENST00000619169.4:c.445G>A	ENSP00000478028.1:p.Asp149Asn
NM_001291726.1:c.*556G>A	NP_001278655.1:n.*556G>A
NM_001291728.1:c.*556G>A	NP_001278657.1:n.*556G>A
NM_001291730.1:c.*556G>A	NP_001278659.1:n.*556G>A
NM_001291732.1:c.*556G>A	NP_001278661.1:n.*556G>A
NM_001291733.1:c.*605G>A	NP_001278662.1:n.*605G>A
NM_033419.4:c.*556G>A	NP_219487.3:n.*556G>A
XM_011525481.1:c.*556G>A	XP_011523783.1:n.*556G>A
XM_011525480.2:c.*588G>A	XP_011523782.1:n.*588G>A
XM_011525481.2:c.*556G>A	XP_011523783.1:n.*556G>A
XR_002958086.1:n.2046G>A
NM_033419.5:c.*556G>A MANE Select	NP_219487.3:n.*556G>A
NM_001291726.2:c.*556G>A	NP_001278655.1:n.*556G>A
NM_001291728.2:c.*556G>A	NP_001278657.1:n.*556G>A
NM_001291730.2:c.*556G>A	NP_001278659.1:n.*556G>A
NM_001291732.2:c.*556G>A	NP_001278661.1:n.*556G>A
NM_001291733.2:c.*605G>A	NP_001278662.1:n.*605G>A