Canonical Allele Identifier: CA399261919

Linked Data

dbSNP Id: rs1455382796

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39687933C>G , CM000679.2:g.39687933C>G GRCh38
NC_000017.10:g.37844186C>G , CM000679.1:g.37844186C>G GRCh37
NC_000017.9:g.35097712C>G NCBI36
NG_007503.1:g.4794C>G , LRG_724:g.4794C>G
NG_034125.1:g.5138G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300658.9:c.82G>C (PGAP3) MANE Select ENSP00000300658.4:p.Val28Leu
ENST00000300658.8:c.82G>C (PGAP3) ENSP00000300658.4:p.Val28Leu
ENST00000309862.10:n.125G>C (PGAP3)
ENST00000378011.8:c.82G>C (PGAP3) ENSP00000367250.4:p.Val28Leu
ENST00000429199.6:c.82G>C (PGAP3) ENSP00000415765.2:p.Val28Leu
ENST00000579146.5:c.82G>C (PGAP3) ENSP00000463234.1:p.Val28Leu
ENST00000582276.1:n.117G>C (PGAP3)
ENST00000584601.5:c.-778C>G (ERBB2) ENSP00000462438.1:n.-778C>G
ENST00000584620.5:c.69G>C (PGAP3)
ENST00000584856.1:c.-35-1914G>C (PGAP3) ENSP00000463785.1:n.-35-1914G>C
ENST00000614824.4:c.82G>C (PGAP3) ENSP00000480165.1:p.Val28Leu
NM_001291726.1:c.82G>C (PGAP3) NP_001278655.1:p.Val28Leu
NM_001291728.1:c.82G>C (PGAP3) NP_001278657.1:p.Val28Leu
NM_001291730.1:c.82G>C (PGAP3) NP_001278659.1:p.Val28Leu
NM_001291732.1:c.82G>C (PGAP3) NP_001278661.1:p.Val28Leu
NM_001291733.1:c.82G>C (PGAP3) NP_001278662.1:p.Val28Leu
NM_033419.4:c.82G>C (PGAP3) NP_219487.3:p.Val28Leu
XM_011525480.1:c.82G>C (PGAP3) XP_011523782.1:p.Val28Leu
XM_011525481.1:c.-406G>C (PGAP3) XP_011523783.1:n.-406G>C
XR_934601.1:n.125G>C (PGAP3)
XM_011525480.2:c.82G>C (PGAP3) XP_011523782.1:p.Val28Leu
XM_011525481.2:c.-406G>C (PGAP3) XP_011523783.1:n.-406G>C
XR_002958086.1:n.125G>C (PGAP3)
NM_033419.5:c.82G>C (PGAP3) MANE Select NP_219487.3:p.Val28Leu
NM_001291726.2:c.82G>C (PGAP3) NP_001278655.1:p.Val28Leu
NM_001291728.2:c.82G>C (PGAP3) NP_001278657.1:p.Val28Leu
NM_001291730.2:c.82G>C (PGAP3) NP_001278659.1:p.Val28Leu
NM_001291732.2:c.82G>C (PGAP3) NP_001278661.1:p.Val28Leu
NM_001291733.2:c.82G>C (PGAP3) NP_001278662.1:p.Val28Leu