Canonical Allele Identifier: CA69744465

Gene: XPC

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14152389C>G , CM000665.2:g.14152389C>G	GRCh38
NC_000003.11:g.14193889C>G , CM000665.1:g.14193889C>G	GRCh37
NC_000003.10:g.14168890C>G	NCBI36
NG_011763.1:g.31284G>C , LRG_472:g.31284G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2061G>C MANE Select	ENSP00000285021.8:p.Arg687Ser
ENST00000285021.11:c.2061G>C	ENSP00000285021.7:p.Arg687Ser
ENST00000476581.6:c.*1514G>C	ENSP00000424548.1:n.*1514G>C
NM_004628.4:c.2061G>C , LRG_472t1:c.2061G>C	NP_004619.3:p.Arg687Ser
NR_027299.1:n.2041G>C
XM_011534092.1:c.2061G>C	XP_011532394.1:p.Arg687Ser
NM_001354726.1:c.1482G>C	NP_001341655.1:p.Arg494Ser
NM_001354727.1:c.2055G>C	NP_001341656.1:p.Arg685Ser
NM_001354729.1:c.2043G>C	NP_001341658.1:p.Arg681Ser
NM_001354730.1:c.1815G>C	NP_001341659.1:p.Arg605Ser
NR_148950.1:n.2004G>C
NR_148951.1:n.1880G>C
XR_001740256.2:n.2094G>C
XR_002959580.1:n.2094G>C
XR_002959581.1:n.3711G>C
NM_001354727.2:c.2055G>C	NP_001341656.1:p.Arg685Ser
NM_004628.5:c.2061G>C MANE Select	NP_004619.3:p.Arg687Ser
NR_148950.2:n.1933G>C
NR_148951.2:n.1809G>C
NM_001354726.2:c.1482G>C	NP_001341655.1:p.Arg494Ser
NM_001354729.2:c.2043G>C	NP_001341658.1:p.Arg681Ser
NM_001354730.2:c.1815G>C	NP_001341659.1:p.Arg605Ser