Canonical Allele Identifier: CA499666312
Gene: PGAP3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.37844106T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39687853T>C , CM000679.2:g.39687853T>C GRCh38
NC_000017.10:g.37844106T>C , CM000679.1:g.37844106T>C GRCh37
NC_000017.9:g.35097632T>C NCBI36
NG_007503.1:g.4714T>C , LRG_724:g.4714T>C
NG_034125.1:g.5218A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300658.9:c.162A>G MANE Select ENSP00000300658.4:p.Pro54=
ENST00000300658.8:c.162A>G ENSP00000300658.4:p.Pro54=
ENST00000309862.10:n.205A>G
ENST00000378011.8:c.162A>G ENSP00000367250.4:p.Pro54=
ENST00000429199.6:c.162A>G ENSP00000415765.2:p.Pro54=
ENST00000579146.5:c.162A>G ENSP00000463234.1:p.Pro54=
ENST00000582276.1:n.197A>G
ENST00000584620.5:c.149A>G
ENST00000584856.1:c.-35-1834A>G ENSP00000463785.1:n.-35-1834A>G
ENST00000614824.4:c.162A>G ENSP00000480165.1:p.Pro54=
NM_001291726.1:c.162A>G NP_001278655.1:p.Pro54=
NM_001291728.1:c.162A>G NP_001278657.1:p.Pro54=
NM_001291730.1:c.162A>G NP_001278659.1:p.Pro54=
NM_001291732.1:c.162A>G NP_001278661.1:p.Pro54=
NM_001291733.1:c.162A>G NP_001278662.1:p.Pro54=
NM_033419.4:c.162A>G NP_219487.3:p.Pro54=
XM_011525480.1:c.162A>G XP_011523782.1:p.Pro54=
XM_011525481.1:c.-326A>G XP_011523783.1:n.-326A>G
XR_934601.1:n.205A>G
XM_011525480.2:c.162A>G XP_011523782.1:p.Pro54=
XM_011525481.2:c.-326A>G XP_011523783.1:n.-326A>G
XR_002958086.1:n.205A>G
NM_033419.5:c.162A>G MANE Select NP_219487.3:p.Pro54=
NM_001291726.2:c.162A>G NP_001278655.1:p.Pro54=
NM_001291728.2:c.162A>G NP_001278657.1:p.Pro54=
NM_001291730.2:c.162A>G NP_001278659.1:p.Pro54=
NM_001291732.2:c.162A>G NP_001278661.1:p.Pro54=
NM_001291733.2:c.162A>G NP_001278662.1:p.Pro54=