Canonical Allele Identifier: CA351537722
Gene: XPC HGNC NCBI

Linked Data

dbSNP Id: rs1232809838
gnomAD v2: 3-14190098-G-C
gnomAD v3: 3-14148598-G-C
gnomAD v4: 3-14148598-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148598G>C , CM000665.2:g.14148598G>C GRCh38
NC_000003.11:g.14190098G>C , CM000665.1:g.14190098G>C GRCh37
NC_000003.10:g.14165099G>C NCBI36
NG_011763.1:g.35075C>G , LRG_472:g.35075C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2384C>G MANE Select ENSP00000285021.8:p.Thr795Ser
ENST00000285021.11:c.2384C>G ENSP00000285021.7:p.Thr795Ser
ENST00000427795.2:n.249C>G
ENST00000476581.6:c.*1837C>G ENSP00000424548.1:n.*1837C>G
NM_004628.4:c.2384C>G , LRG_472t1:c.2384C>G NP_004619.3:p.Thr795Ser
NR_027299.1:n.2364C>G
XM_011534092.1:c.2384C>G XP_011532394.1:p.Thr795Ser
NM_001354726.1:c.1805C>G NP_001341655.1:p.Thr602Ser
NM_001354727.1:c.2378C>G NP_001341656.1:p.Thr793Ser
NM_001354729.1:c.2366C>G NP_001341658.1:p.Thr789Ser
NM_001354730.1:c.2138C>G NP_001341659.1:p.Thr713Ser
NR_148950.1:n.2327C>G
NR_148951.1:n.2203C>G
XR_001740256.2:n.2417C>G
XR_002959580.1:n.2417C>G
XR_002959581.1:n.4034C>G
NM_001354727.2:c.2378C>G NP_001341656.1:p.Thr793Ser
NM_004628.5:c.2384C>G MANE Select NP_004619.3:p.Thr795Ser
NR_148950.2:n.2256C>G
NR_148951.2:n.2132C>G
NM_001354726.2:c.1805C>G NP_001341655.1:p.Thr602Ser
NM_001354729.2:c.2366C>G NP_001341658.1:p.Thr789Ser
NM_001354730.2:c.2138C>G NP_001341659.1:p.Thr713Ser