Canonical Allele Identifier: CA399261573

Gene: PGAP3

Linked Data

• gnomAD v4: 17-39687868-G-C
• MyVariant Identifiers: chr17:g.37844121G>C (hg19) ; chr17:g.39687868G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39687868G>C , CM000679.2:g.39687868G>C	GRCh38
NC_000017.10:g.37844121G>C , CM000679.1:g.37844121G>C	GRCh37
NC_000017.9:g.35097647G>C	NCBI36
NG_007503.1:g.4729G>C , LRG_724:g.4729G>C
NG_034125.1:g.5203C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300658.9:c.147C>G MANE Select	ENSP00000300658.4:p.Phe49Leu
ENST00000300658.8:c.147C>G	ENSP00000300658.4:p.Phe49Leu
ENST00000309862.10:n.190C>G
ENST00000378011.8:c.147C>G	ENSP00000367250.4:p.Phe49Leu
ENST00000429199.6:c.147C>G	ENSP00000415765.2:p.Phe49Leu
ENST00000579146.5:c.147C>G	ENSP00000463234.1:p.Phe49Leu
ENST00000582276.1:n.182C>G
ENST00000584620.5:c.134C>G
ENST00000584856.1:c.-35-1849C>G	ENSP00000463785.1:n.-35-1849C>G
ENST00000614824.4:c.147C>G	ENSP00000480165.1:p.Phe49Leu
NM_001291726.1:c.147C>G	NP_001278655.1:p.Phe49Leu
NM_001291728.1:c.147C>G	NP_001278657.1:p.Phe49Leu
NM_001291730.1:c.147C>G	NP_001278659.1:p.Phe49Leu
NM_001291732.1:c.147C>G	NP_001278661.1:p.Phe49Leu
NM_001291733.1:c.147C>G	NP_001278662.1:p.Phe49Leu
NM_033419.4:c.147C>G	NP_219487.3:p.Phe49Leu
XM_011525480.1:c.147C>G	XP_011523782.1:p.Phe49Leu
XM_011525481.1:c.-341C>G	XP_011523783.1:n.-341C>G
XR_934601.1:n.190C>G
XM_011525480.2:c.147C>G	XP_011523782.1:p.Phe49Leu
XM_011525481.2:c.-341C>G	XP_011523783.1:n.-341C>G
XR_002958086.1:n.190C>G
NM_033419.5:c.147C>G MANE Select	NP_219487.3:p.Phe49Leu
NM_001291726.2:c.147C>G	NP_001278655.1:p.Phe49Leu
NM_001291728.2:c.147C>G	NP_001278657.1:p.Phe49Leu
NM_001291730.2:c.147C>G	NP_001278659.1:p.Phe49Leu
NM_001291732.2:c.147C>G	NP_001278661.1:p.Phe49Leu
NM_001291733.2:c.147C>G	NP_001278662.1:p.Phe49Leu