Canonical Allele Identifier: CA351538983
Gene: XPC HGNC NCBI

Linked Data

dbSNP Id: rs1180895832
gnomAD v3: 3-14158066-G-C
gnomAD v4: 3-14158066-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14158066G>C , CM000665.2:g.14158066G>C GRCh38
NC_000003.11:g.14199566G>C , CM000665.1:g.14199566G>C GRCh37
NC_000003.10:g.14174568G>C NCBI36
NG_011763.1:g.25607C>G , LRG_472:g.25607C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.1817C>G MANE Select ENSP00000285021.8:p.Thr606Ser
ENST00000285021.11:c.1817C>G ENSP00000285021.7:p.Thr606Ser
ENST00000476581.6:c.*1270C>G ENSP00000424548.1:n.*1270C>G
NM_004628.4:c.1817C>G , LRG_472t1:c.1817C>G NP_004619.3:p.Thr606Ser
NR_027299.1:n.1797C>G
XM_011534092.1:c.1817C>G XP_011532394.1:p.Thr606Ser
XM_011534093.1:c.1817C>G XP_011532395.1:p.Thr606Ser
NM_001354726.1:c.1238C>G NP_001341655.1:p.Thr413Ser
NM_001354727.1:c.1817C>G NP_001341656.1:p.Thr606Ser
NM_001354729.1:c.1799C>G NP_001341658.1:p.Thr600Ser
NM_001354730.1:c.1626+191C>G NP_001341659.1:n.1626+191C>G
NR_148950.1:n.1921C>G
NR_148951.1:n.1797C>G
XR_001740256.2:n.1850C>G
XR_002959580.1:n.1850C>G
XR_002959581.1:n.1850C>G
NM_001354727.2:c.1817C>G NP_001341656.1:p.Thr606Ser
NM_004628.5:c.1817C>G MANE Select NP_004619.3:p.Thr606Ser
NR_148950.2:n.1850C>G
NR_148951.2:n.1726C>G
NM_001354726.2:c.1238C>G NP_001341655.1:p.Thr413Ser
NM_001354729.2:c.1799C>G NP_001341658.1:p.Thr600Ser
NM_001354730.2:c.1626+191C>G NP_001341659.1:n.1626+191C>G