Canonical Allele Identifier: CA10251957
Community Standard Title: NM_022098.4(XPNPEP3):c.1477C>G (p.Pro493Ala)
Gene: XPNPEP3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40926388C>G , CM000684.2:g.40926388C>G GRCh38
NC_000022.10:g.41322392C>G , CM000684.1:g.41322392C>G GRCh37
NC_000022.9:g.39652338C>G NCBI36
NG_028221.1:g.74308C>G

Transcript Alleles

HGVS Amino-acid Change
NM_022098.4:c.1477C>G MANE Select NP_071381.1:p.Pro493Ala
ENST00000357137.9:c.1477C>G MANE Select ENSP00000349658.4:p.Pro493Ala
NM_022098.3:c.1477C>G NP_071381.1:p.Pro493Ala
ENST00000357137.8:c.1477C>G ENSP00000349658.4:p.Pro493Ala
ENST00000428799.1:c.*1359C>G ENSP00000394283.1:n.*1359C>G
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