Canonical Allele Identifier: CA10251702
Community Standard Title: NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu)
Gene: XPNPEP3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40886441A>T , CM000684.2:g.40886441A>T GRCh38
NC_000022.10:g.41282445A>T , CM000684.1:g.41282445A>T GRCh37
NC_000022.9:g.39612391A>T NCBI36
NG_028221.1:g.34361A>T

Transcript Alleles

HGVS Amino-acid Change
NM_022098.4:c.718A>T MANE Select NP_071381.1:p.Ile240Leu
ENST00000357137.9:c.718A>T MANE Select ENSP00000349658.4:p.Ile240Leu
NM_022098.3:c.718A>T NP_071381.1:p.Ile240Leu
ENST00000357137.8:c.718A>T ENSP00000349658.4:p.Ile240Leu
ENST00000428799.1:c.*600A>T ENSP00000394283.1:n.*600A>T
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