Canonical Allele Identifier: CA2659132903
Gene: PNPT1 HGNC NCBI

Linked Data

gnomAD v4: 2-55666922-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55666922T>G , CM000664.2:g.55666922T>G GRCh38
NC_000002.11:g.55894057T>G , CM000664.1:g.55894057T>G GRCh37
NC_000002.10:g.55747561T>G NCBI36
NG_033012.1:g.31989A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000447944.7:c.1176+69A>C MANE Select ENSP00000400646.2:n.1176+69A>C
ENST00000260604.8:c.*731+69A>C ENSP00000260604.4:n.*731+69A>C
ENST00000415374.5:c.1176+69A>C ENSP00000393953.1:n.1176+69A>C
ENST00000415489.1:c.250+69A>C
ENST00000447944.6:c.1176+69A>C ENSP00000400646.2:n.1176+69A>C
NM_033109.4:c.1176+69A>C NP_149100.2:n.1176+69A>C
XM_005264629.1:c.936+69A>C XP_005264686.1:n.936+69A>C
XM_011533142.1:c.1176+69A>C XP_011531444.1:n.1176+69A>C
XM_005264629.2:c.936+69A>C XP_005264686.1:n.936+69A>C
XM_017005172.1:c.936+69A>C XP_016860661.1:n.936+69A>C
XR_001739010.1:n.1206+69A>C
NM_033109.5:c.1176+69A>C MANE Select NP_149100.2:n.1176+69A>C
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