Canonical Allele Identifier: CA47665097
Gene: PNPT1 HGNC NCBI

Linked Data

dbSNP Id: rs75289039
gnomAD v2: 2-55908128-C-G
gnomAD v3: 2-55680993-C-G
gnomAD v4: 2-55680993-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55680993C>G , CM000664.2:g.55680993C>G GRCh38
NC_000002.11:g.55908128C>G , CM000664.1:g.55908128C>G GRCh37
NC_000002.10:g.55761632C>G NCBI36
NG_033012.1:g.17918G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000447944.7:c.454-75G>C MANE Select ENSP00000400646.2:n.454-75G>C
ENST00000260604.8:c.454-75G>C ENSP00000260604.4:n.454-75G>C
ENST00000415374.5:c.454-75G>C ENSP00000393953.1:n.454-75G>C
ENST00000429805.1:c.*102-75G>C ENSP00000411994.1:n.*102-75G>C
ENST00000447944.6:c.454-75G>C ENSP00000400646.2:n.454-75G>C
NM_033109.4:c.454-75G>C NP_149100.2:n.454-75G>C
XM_005264629.1:c.214-75G>C XP_005264686.1:n.214-75G>C
XM_011533142.1:c.454-75G>C XP_011531444.1:n.454-75G>C
XM_005264629.2:c.214-75G>C XP_005264686.1:n.214-75G>C
XM_017005172.1:c.214-75G>C XP_016860661.1:n.214-75G>C
XR_001739010.1:n.484-75G>C
NM_033109.5:c.454-75G>C MANE Select NP_149100.2:n.454-75G>C