Canonical Allele Identifier: CA351541358
Community Standard Title: NM_004628.5(XPC):c.977C>G (p.Ser326Ter)
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14159754G>C , CM000665.2:g.14159754G>C GRCh38
NC_000003.11:g.14201254G>C , CM000665.1:g.14201254G>C GRCh37
NC_000003.10:g.14176258G>C NCBI36
NG_011763.1:g.23919C>G , LRG_472:g.23919C>G

Transcript Alleles

HGVS Amino-acid Change
NM_004628.5:c.977C>G MANE Select NP_004619.3:p.Ser326Ter
ENST00000285021.12:c.977C>G MANE Select ENSP00000285021.8:p.Ser326Ter
NM_001354726.1:c.398C>G NP_001341655.1:p.Ser133Ter
NM_001354726.2:c.398C>G NP_001341655.1:p.Ser133Ter
NM_001354727.1:c.977C>G NP_001341656.1:p.Ser326Ter
NM_001354727.2:c.977C>G NP_001341656.1:p.Ser326Ter
NM_001354729.1:c.959C>G NP_001341658.1:p.Ser320Ter
NM_001354729.2:c.959C>G NP_001341658.1:p.Ser320Ter
NM_001354730.1:c.977C>G NP_001341659.1:p.Ser326Ter
NM_001354730.2:c.977C>G NP_001341659.1:p.Ser326Ter
NM_004628.4:c.977C>G , LRG_472t1:c.977C>G NP_004619.3:p.Ser326Ter
NR_027299.1:n.957C>G
NR_148950.1:n.1081C>G
NR_148950.2:n.1010C>G
NR_148951.1:n.957C>G
NR_148951.2:n.886C>G
ENST00000285021.11:c.977C>G ENSP00000285021.7:p.Ser326Ter
ENST00000476581.6:c.*430C>G ENSP00000424548.1:n.*430C>G
ENST00000477324.6:n.455C>G
XM_011534092.1:c.977C>G XP_011532394.1:p.Ser326Ter
XM_011534093.1:c.977C>G XP_011532395.1:p.Ser326Ter
XR_001740256.2:n.1010C>G
XR_002959580.1:n.1010C>G
XR_002959581.1:n.1010C>G