Canonical Allele Identifier: CA351539060

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14199600T>G (hg19) ; chr3:g.14158100T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158100T>G , CM000665.2:g.14158100T>G	GRCh38
NC_000003.11:g.14199600T>G , CM000665.1:g.14199600T>G	GRCh37
NC_000003.10:g.14174602T>G	NCBI36
NG_011763.1:g.25573A>C , LRG_472:g.25573A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1783A>C MANE Select	ENSP00000285021.8:p.Lys595Gln
ENST00000285021.11:c.1783A>C	ENSP00000285021.7:p.Lys595Gln
ENST00000476581.6:c.*1236A>C	ENSP00000424548.1:n.*1236A>C
NM_004628.4:c.1783A>C , LRG_472t1:c.1783A>C	NP_004619.3:p.Lys595Gln
NR_027299.1:n.1763A>C
XM_011534092.1:c.1783A>C	XP_011532394.1:p.Lys595Gln
XM_011534093.1:c.1783A>C	XP_011532395.1:p.Lys595Gln
NM_001354726.1:c.1204A>C	NP_001341655.1:p.Lys402Gln
NM_001354727.1:c.1783A>C	NP_001341656.1:p.Lys595Gln
NM_001354729.1:c.1765A>C	NP_001341658.1:p.Lys589Gln
NM_001354730.1:c.1626+157A>C	NP_001341659.1:n.1626+157A>C
NR_148950.1:n.1887A>C
NR_148951.1:n.1763A>C
XR_001740256.2:n.1816A>C
XR_002959580.1:n.1816A>C
XR_002959581.1:n.1816A>C
NM_001354727.2:c.1783A>C	NP_001341656.1:p.Lys595Gln
NM_004628.5:c.1783A>C MANE Select	NP_004619.3:p.Lys595Gln
NR_148950.2:n.1816A>C
NR_148951.2:n.1692A>C
NM_001354726.2:c.1204A>C	NP_001341655.1:p.Lys402Gln
NM_001354729.2:c.1765A>C	NP_001341658.1:p.Lys589Gln
NM_001354730.2:c.1626+157A>C	NP_001341659.1:n.1626+157A>C