Canonical Allele Identifier: CA2267613

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14165468G>A , CM000665.2:g.14165468G>A	GRCh38
NC_000003.11:g.14206968G>A , CM000665.1:g.14206968G>A	GRCh37
NC_000003.10:g.14181972G>A	NCBI36
NG_011763.1:g.18205C>T , LRG_472:g.18205C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.739C>T MANE Select	NP_004619.3:p.Arg247Ter
ENST00000285021.12:c.739C>T MANE Select	ENSP00000285021.8:p.Arg247Ter
NM_001354726.1:c.160C>T	NP_001341655.1:p.Arg54Ter
NM_001354726.2:c.160C>T	NP_001341655.1:p.Arg54Ter
NM_001354727.1:c.739C>T	NP_001341656.1:p.Arg247Ter
NM_001354727.2:c.739C>T	NP_001341656.1:p.Arg247Ter
NM_001354729.1:c.721C>T	NP_001341658.1:p.Arg241Ter
NM_001354729.2:c.721C>T	NP_001341658.1:p.Arg241Ter
NM_001354730.1:c.739C>T	NP_001341659.1:p.Arg247Ter
NM_001354730.2:c.739C>T	NP_001341659.1:p.Arg247Ter
NM_004628.4:c.739C>T , LRG_472t1:c.739C>T	NP_004619.3:p.Arg247Ter
NR_027299.1:n.719C>T
NR_148950.1:n.843C>T
NR_148950.2:n.772C>T
NR_148951.1:n.719C>T
NR_148951.2:n.648C>T
ENST00000285021.11:c.739C>T	ENSP00000285021.7:p.Arg247Ter
ENST00000452172.1:n.504C>T
ENST00000455144.6:n.350C>T
ENST00000476581.6:c.*192C>T	ENSP00000424548.1:n.*192C>T
ENST00000477324.6:n.217C>T
XM_011534092.1:c.739C>T	XP_011532394.1:p.Arg247Ter
XM_011534093.1:c.739C>T	XP_011532395.1:p.Arg247Ter
XR_001740256.2:n.772C>T
XR_002959580.1:n.772C>T
XR_002959581.1:n.772C>T