Canonical Allele Identifier: CA499666328

Gene: PGAP3

Linked Data

• gnomAD v4: 17-39687879-G-A
• MyVariant Identifiers: chr17:g.37844132G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39687879G>A , CM000679.2:g.39687879G>A	GRCh38
NC_000017.10:g.37844132G>A , CM000679.1:g.37844132G>A	GRCh37
NC_000017.9:g.35097658G>A	NCBI36
NG_007503.1:g.4740G>A , LRG_724:g.4740G>A
NG_034125.1:g.5192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.136C>T MANE Select	ENSP00000300658.4:p.Leu46=
ENST00000300658.8:c.136C>T	ENSP00000300658.4:p.Leu46=
ENST00000309862.10:n.179C>T
ENST00000378011.8:c.136C>T	ENSP00000367250.4:p.Leu46=
ENST00000429199.6:c.136C>T	ENSP00000415765.2:p.Leu46=
ENST00000579146.5:c.136C>T	ENSP00000463234.1:p.Leu46=
ENST00000582276.1:n.171C>T
ENST00000584620.5:c.123C>T
ENST00000584856.1:c.-35-1860C>T	ENSP00000463785.1:n.-35-1860C>T
ENST00000614824.4:c.136C>T	ENSP00000480165.1:p.Leu46=
NM_001291726.1:c.136C>T	NP_001278655.1:p.Leu46=
NM_001291728.1:c.136C>T	NP_001278657.1:p.Leu46=
NM_001291730.1:c.136C>T	NP_001278659.1:p.Leu46=
NM_001291732.1:c.136C>T	NP_001278661.1:p.Leu46=
NM_001291733.1:c.136C>T	NP_001278662.1:p.Leu46=
NM_033419.4:c.136C>T	NP_219487.3:p.Leu46=
XM_011525480.1:c.136C>T	XP_011523782.1:p.Leu46=
XM_011525481.1:c.-352C>T	XP_011523783.1:n.-352C>T
XR_934601.1:n.179C>T
XM_011525480.2:c.136C>T	XP_011523782.1:p.Leu46=
XM_011525481.2:c.-352C>T	XP_011523783.1:n.-352C>T
XR_002958086.1:n.179C>T
NM_033419.5:c.136C>T MANE Select	NP_219487.3:p.Leu46=
NM_001291726.2:c.136C>T	NP_001278655.1:p.Leu46=
NM_001291728.2:c.136C>T	NP_001278657.1:p.Leu46=
NM_001291730.2:c.136C>T	NP_001278659.1:p.Leu46=
NM_001291732.2:c.136C>T	NP_001278661.1:p.Leu46=
NM_001291733.2:c.136C>T	NP_001278662.1:p.Leu46=