Canonical Allele Identifier: CA2267331

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14156474G>A , CM000665.2:g.14156474G>A	GRCh38
NC_000003.11:g.14197974G>A , CM000665.1:g.14197974G>A	GRCh37
NC_000003.10:g.14172976G>A	NCBI36
NG_011763.1:g.27199C>T , LRG_472:g.27199C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.1894C>T MANE Select	NP_004619.3:p.Gln632Ter
ENST00000285021.12:c.1894C>T MANE Select	ENSP00000285021.8:p.Gln632Ter
NM_001354726.1:c.1315C>T	NP_001341655.1:p.Gln439Ter
NM_001354726.2:c.1315C>T	NP_001341655.1:p.Gln439Ter
NM_001354727.1:c.1872+1537C>T	NP_001341656.1:n.1872+1537C>T
NM_001354727.2:c.1872+1537C>T	NP_001341656.1:n.1872+1537C>T
NM_001354729.1:c.1876C>T	NP_001341658.1:p.Gln626Ter
NM_001354729.2:c.1876C>T	NP_001341658.1:p.Gln626Ter
NM_001354730.1:c.1648C>T	NP_001341659.1:p.Gln550Ter
NM_001354730.2:c.1648C>T	NP_001341659.1:p.Gln550Ter
NM_004628.4:c.1894C>T , LRG_472t1:c.1894C>T	NP_004619.3:p.Gln632Ter
NR_027299.1:n.1874C>T
NR_148950.1:n.1976+1537C>T
NR_148950.2:n.1905+1537C>T
NR_148951.1:n.1852+1537C>T
NR_148951.2:n.1781+1537C>T
ENST00000285021.11:c.1894C>T	ENSP00000285021.7:p.Gln632Ter
ENST00000476581.6:c.*1347C>T	ENSP00000424548.1:n.*1347C>T
XM_011534092.1:c.1894C>T	XP_011532394.1:p.Gln632Ter
XM_011534093.1:c.1894C>T	XP_011532395.1:p.Gln632Ter
XR_001740256.2:n.1927C>T
XR_002959580.1:n.1927C>T
XR_002959581.1:n.1927C>T