Canonical Allele Identifier: CA10251881
Community Standard Title: NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=)
Gene: XPNPEP3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.40922465T>C , CM000684.2:g.40922465T>C GRCh38
NC_000022.10:g.41318469T>C , CM000684.1:g.41318469T>C GRCh37
NC_000022.9:g.39648415T>C NCBI36
NG_028221.1:g.70385T>C

Transcript Alleles

HGVS Amino-acid Change
NM_022098.4:c.1188T>C MANE Select NP_071381.1:p.Leu396=
ENST00000357137.9:c.1188T>C MANE Select ENSP00000349658.4:p.Leu396=
NM_022098.3:c.1188T>C NP_071381.1:p.Leu396=
ENST00000357137.8:c.1188T>C ENSP00000349658.4:p.Leu396=
ENST00000428799.1:c.*1070T>C ENSP00000394283.1:n.*1070T>C
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