Canonical Allele Identifier: CA432813631
Gene: XPC HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14190154C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14148654C>G , CM000665.2:g.14148654C>G GRCh38
NC_000003.11:g.14190154C>G , CM000665.1:g.14190154C>G GRCh37
NC_000003.10:g.14165155C>G NCBI36
NG_011763.1:g.35019G>C , LRG_472:g.35019G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.2328G>C MANE Select ENSP00000285021.8:p.Leu776=
ENST00000285021.11:c.2328G>C ENSP00000285021.7:p.Leu776=
ENST00000427795.2:n.193G>C
ENST00000476581.6:c.*1781G>C ENSP00000424548.1:n.*1781G>C
NM_004628.4:c.2328G>C , LRG_472t1:c.2328G>C NP_004619.3:p.Leu776=
NR_027299.1:n.2308G>C
XM_011534092.1:c.2328G>C XP_011532394.1:p.Leu776=
NM_001354726.1:c.1749G>C NP_001341655.1:p.Leu583=
NM_001354727.1:c.2322G>C NP_001341656.1:p.Leu774=
NM_001354729.1:c.2310G>C NP_001341658.1:p.Leu770=
NM_001354730.1:c.2082G>C NP_001341659.1:p.Leu694=
NR_148950.1:n.2271G>C
NR_148951.1:n.2147G>C
XR_001740256.2:n.2361G>C
XR_002959580.1:n.2361G>C
XR_002959581.1:n.3978G>C
NM_001354727.2:c.2322G>C NP_001341656.1:p.Leu774=
NM_004628.5:c.2328G>C MANE Select NP_004619.3:p.Leu776=
NR_148950.2:n.2200G>C
NR_148951.2:n.2076G>C
NM_001354726.2:c.1749G>C NP_001341655.1:p.Leu583=
NM_001354729.2:c.2310G>C NP_001341658.1:p.Leu770=
NM_001354730.2:c.2082G>C NP_001341659.1:p.Leu694=