Canonical Allele Identifier: CA2659131604
Gene: PNPT1 HGNC NCBI

Linked Data

gnomAD v4: 2-55656064-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55656064G>T , CM000664.2:g.55656064G>T GRCh38
NC_000002.11:g.55883199G>T , CM000664.1:g.55883199G>T GRCh37
NC_000002.10:g.55736703G>T NCBI36
NG_033012.1:g.42847C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000447944.7:c.1441+67C>A MANE Select ENSP00000400646.2:n.1441+67C>A
ENST00000260604.8:c.*996+67C>A ENSP00000260604.4:n.*996+67C>A
ENST00000415374.5:c.1441+67C>A ENSP00000393953.1:n.1441+67C>A
ENST00000415489.1:c.448+67C>A
ENST00000447944.6:c.1441+67C>A ENSP00000400646.2:n.1441+67C>A
NM_033109.4:c.1441+67C>A NP_149100.2:n.1441+67C>A
XM_005264629.1:c.1201+67C>A XP_005264686.1:n.1201+67C>A
XM_011533142.1:c.1441+67C>A XP_011531444.1:n.1441+67C>A
XM_005264629.2:c.1201+67C>A XP_005264686.1:n.1201+67C>A
XM_017005172.1:c.1201+67C>A XP_016860661.1:n.1201+67C>A
XR_001739010.1:n.1471+67C>A
NM_033109.5:c.1441+67C>A MANE Select NP_149100.2:n.1441+67C>A
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