Canonical Allele Identifier: CA2267165

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148570G>A , CM000665.2:g.14148570G>A	GRCh38
NC_000003.11:g.14190070G>A , CM000665.1:g.14190070G>A	GRCh37
NC_000003.10:g.14165071G>A	NCBI36
NG_011763.1:g.35103C>T , LRG_472:g.35103C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2412C>T MANE Select	NP_004619.3:p.Ser804=
ENST00000285021.12:c.2412C>T MANE Select	ENSP00000285021.8:p.Ser804=
NM_001354726.1:c.1833C>T	NP_001341655.1:p.Ser611=
NM_001354726.2:c.1833C>T	NP_001341655.1:p.Ser611=
NM_001354727.1:c.2406C>T	NP_001341656.1:p.Ser802=
NM_001354727.2:c.2406C>T	NP_001341656.1:p.Ser802=
NM_001354729.1:c.2394C>T	NP_001341658.1:p.Ser798=
NM_001354729.2:c.2394C>T	NP_001341658.1:p.Ser798=
NM_001354730.1:c.2166C>T	NP_001341659.1:p.Ser722=
NM_001354730.2:c.2166C>T	NP_001341659.1:p.Ser722=
NM_004628.4:c.2412C>T , LRG_472t1:c.2412C>T	NP_004619.3:p.Ser804=
NR_027299.1:n.2392C>T
NR_148950.1:n.2355C>T
NR_148950.2:n.2284C>T
NR_148951.1:n.2231C>T
NR_148951.2:n.2160C>T
ENST00000285021.11:c.2412C>T	ENSP00000285021.7:p.Ser804=
ENST00000427795.2:n.277C>T
ENST00000476581.6:c.*1865C>T	ENSP00000424548.1:n.*1865C>T
XM_011534092.1:c.2412C>T	XP_011532394.1:p.Ser804=
XR_001740256.2:n.2445C>T
XR_002959580.1:n.2445C>T
XR_002959581.1:n.4062C>T