Canonical Allele Identifier: CA162930

Gene: XPC

Linked Data

• ClinVar Variation Id: 135490
• ClinVar RCV Id: RCV000122349 ; RCV000907099 ; RCV001150645 ; RCV003945106
• dbSNP Id: rs3731130
• ExAC: 3:14199844 C / G
• gnomAD v2: 3-14199844-C-G
• gnomAD v3: 3-14158344-C-G
• gnomAD v4: 3-14158344-C-G
• MyVariant Identifiers: chr3:g.14199844C>G (hg19) ; chr3:g.14158344C>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158344C>G , CM000665.2:g.14158344C>G	GRCh38
NC_000003.11:g.14199844C>G , CM000665.1:g.14199844C>G	GRCh37
NC_000003.10:g.14174846C>G	NCBI36
NG_011763.1:g.25329G>C , LRG_472:g.25329G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1539G>C MANE Select	ENSP00000285021.8:p.Met513Ile
ENST00000285021.11:c.1539G>C	ENSP00000285021.7:p.Met513Ile
ENST00000476581.6:c.*992G>C	ENSP00000424548.1:n.*992G>C
NM_004628.4:c.1539G>C , LRG_472t1:c.1539G>C	NP_004619.3:p.Met513Ile
NR_027299.1:n.1519G>C
XM_011534092.1:c.1539G>C	XP_011532394.1:p.Met513Ile
XM_011534093.1:c.1539G>C	XP_011532395.1:p.Met513Ile
NM_001354726.1:c.960G>C	NP_001341655.1:p.Met320Ile
NM_001354727.1:c.1539G>C	NP_001341656.1:p.Met513Ile
NM_001354729.1:c.1521G>C	NP_001341658.1:p.Met507Ile
NM_001354730.1:c.1539G>C	NP_001341659.1:p.Met513Ile
NR_148950.1:n.1643G>C
NR_148951.1:n.1519G>C
XR_001740256.2:n.1572G>C
XR_002959580.1:n.1572G>C
XR_002959581.1:n.1572G>C
NM_001354727.2:c.1539G>C	NP_001341656.1:p.Met513Ile
NM_004628.5:c.1539G>C MANE Select	NP_004619.3:p.Met513Ile
NR_148950.2:n.1572G>C
NR_148951.2:n.1448G>C
NM_001354726.2:c.960G>C	NP_001341655.1:p.Met320Ile
NM_001354729.2:c.1521G>C	NP_001341658.1:p.Met507Ile
NM_001354730.2:c.1539G>C	NP_001341659.1:p.Met513Ile