Canonical Allele Identifier: CA351542430
Community Standard Title: NM_004628.5(XPC):c.537-1G>C
Gene: XPC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14167254C>G , CM000665.2:g.14167254C>G GRCh38
NC_000003.11:g.14208754C>G , CM000665.1:g.14208754C>G GRCh37
NC_000003.10:g.14183758C>G NCBI36
NG_011763.1:g.16419G>C , LRG_472:g.16419G>C

Transcript Alleles

HGVS Amino-acid Change
NM_004628.5:c.537-1G>C MANE Select NP_004619.3:n.537-1G>C
ENST00000285021.12:c.537-1G>C MANE Select ENSP00000285021.8:n.537-1G>C
NM_001354726.1:c.-43-1G>C NP_001341655.1:n.-43-1G>C
NM_001354726.2:c.-43-1G>C NP_001341655.1:n.-43-1G>C
NM_001354727.1:c.537-1G>C NP_001341656.1:n.537-1G>C
NM_001354727.2:c.537-1G>C NP_001341656.1:n.537-1G>C
NM_001354729.1:c.519-1G>C NP_001341658.1:n.519-1G>C
NM_001354729.2:c.519-1G>C NP_001341658.1:n.519-1G>C
NM_001354730.1:c.537-1G>C NP_001341659.1:n.537-1G>C
NM_001354730.2:c.537-1G>C NP_001341659.1:n.537-1G>C
NM_004628.4:c.537-1G>C , LRG_472t1:c.537-1G>C NP_004619.3:n.537-1G>C
NR_027299.1:n.517-1G>C
NR_148950.1:n.641-1G>C
NR_148950.2:n.570-1G>C
NR_148951.1:n.517-1G>C
NR_148951.2:n.446-1G>C
ENST00000285021.11:c.537-1G>C ENSP00000285021.7:n.537-1G>C
ENST00000452172.1:n.302-1G>C
ENST00000455144.6:n.148-1G>C
ENST00000476581.6:c.413-1G>C ENSP00000424548.1:n.413-1G>C
ENST00000477324.6:n.14G>C
XM_011534092.1:c.537-1G>C XP_011532394.1:n.537-1G>C
XM_011534093.1:c.537-1G>C XP_011532395.1:n.537-1G>C
XR_001740256.2:n.570-1G>C
XR_002959580.1:n.570-1G>C
XR_002959581.1:n.570-1G>C