Canonical Allele Identifier: CA2664573419
Gene: XPC HGNC NCBI

Linked Data

gnomAD v4: 3-14148527-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148527C>G , CM000665.2:g.14148527C>G GRCh38
NC_000003.11:g.14190027C>G , CM000665.1:g.14190027C>G GRCh37
NC_000003.10:g.14165028C>G NCBI36
NG_011763.1:g.35146G>C , LRG_472:g.35146G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2420+35G>C MANE Select ENSP00000285021.8:n.2420+35G>C
ENST00000285021.11:c.2420+35G>C ENSP00000285021.7:n.2420+35G>C
ENST00000427795.2:n.285+35G>C
ENST00000476581.6:c.*1873+35G>C ENSP00000424548.1:n.*1873+35G>C
NM_004628.4:c.2420+35G>C , LRG_472t1:c.2420+35G>C NP_004619.3:n.2420+35G>C
NR_027299.1:n.2400+35G>C
XM_011534092.1:c.2420+35G>C XP_011532394.1:n.2420+35G>C
NM_001354726.1:c.1841+35G>C NP_001341655.1:n.1841+35G>C
NM_001354727.1:c.2414+35G>C NP_001341656.1:n.2414+35G>C
NM_001354729.1:c.2402+35G>C NP_001341658.1:n.2402+35G>C
NM_001354730.1:c.2174+35G>C NP_001341659.1:n.2174+35G>C
NR_148950.1:n.2363+35G>C
NR_148951.1:n.2239+35G>C
XR_001740256.2:n.2453+35G>C
XR_002959580.1:n.2453+35G>C
XR_002959581.1:n.4070+35G>C
NM_001354727.2:c.2414+35G>C NP_001341656.1:n.2414+35G>C
NM_004628.5:c.2420+35G>C MANE Select NP_004619.3:n.2420+35G>C
NR_148950.2:n.2292+35G>C
NR_148951.2:n.2168+35G>C
NM_001354726.2:c.1841+35G>C NP_001341655.1:n.1841+35G>C
NM_001354729.2:c.2402+35G>C NP_001341658.1:n.2402+35G>C
NM_001354730.2:c.2174+35G>C NP_001341659.1:n.2174+35G>C