Canonical Allele Identifier: CA351541716
Community Standard Title: NM_004628.5(XPC):c.856A>T (p.Arg286Ter)
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14164857T>A , CM000665.2:g.14164857T>A GRCh38
NC_000003.11:g.14206357T>A , CM000665.1:g.14206357T>A GRCh37
NC_000003.10:g.14181361T>A NCBI36
NG_011763.1:g.18816A>T , LRG_472:g.18816A>T

Transcript Alleles

HGVS Amino-acid Change
NM_004628.5:c.856A>T MANE Select NP_004619.3:p.Arg286Ter
ENST00000285021.12:c.856A>T MANE Select ENSP00000285021.8:p.Arg286Ter
NM_001354726.1:c.277A>T NP_001341655.1:p.Arg93Ter
NM_001354726.2:c.277A>T NP_001341655.1:p.Arg93Ter
NM_001354727.1:c.856A>T NP_001341656.1:p.Arg286Ter
NM_001354727.2:c.856A>T NP_001341656.1:p.Arg286Ter
NM_001354729.1:c.838A>T NP_001341658.1:p.Arg280Ter
NM_001354729.2:c.838A>T NP_001341658.1:p.Arg280Ter
NM_001354730.1:c.856A>T NP_001341659.1:p.Arg286Ter
NM_001354730.2:c.856A>T NP_001341659.1:p.Arg286Ter
NM_004628.4:c.856A>T , LRG_472t1:c.856A>T NP_004619.3:p.Arg286Ter
NR_027299.1:n.836A>T
NR_148950.1:n.960A>T
NR_148950.2:n.889A>T
NR_148951.1:n.836A>T
NR_148951.2:n.765A>T
ENST00000285021.11:c.856A>T ENSP00000285021.7:p.Arg286Ter
ENST00000455144.6:n.467A>T
ENST00000476581.6:c.*309A>T ENSP00000424548.1:n.*309A>T
ENST00000477324.6:n.334A>T
XM_011534092.1:c.856A>T XP_011532394.1:p.Arg286Ter
XM_011534093.1:c.856A>T XP_011532395.1:p.Arg286Ter
XR_001740256.2:n.889A>T
XR_002959580.1:n.889A>T
XR_002959581.1:n.889A>T