Canonical Allele Identifier: CA351538193

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190399G>T (hg19) ; chr3:g.14148899G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148899G>T , CM000665.2:g.14148899G>T	GRCh38
NC_000003.11:g.14190399G>T , CM000665.1:g.14190399G>T	GRCh37
NC_000003.10:g.14165400G>T	NCBI36
NG_011763.1:g.34774C>A , LRG_472:g.34774C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2165C>A MANE Select	ENSP00000285021.8:p.Pro722His
ENST00000285021.11:c.2165C>A	ENSP00000285021.7:p.Pro722His
ENST00000427795.2:n.30C>A
ENST00000476581.6:c.*1618C>A	ENSP00000424548.1:n.*1618C>A
NM_004628.4:c.2165C>A , LRG_472t1:c.2165C>A	NP_004619.3:p.Pro722His
NR_027299.1:n.2145C>A
XM_011534092.1:c.2165C>A	XP_011532394.1:p.Pro722His
NM_001354726.1:c.1586C>A	NP_001341655.1:p.Pro529His
NM_001354727.1:c.2159C>A	NP_001341656.1:p.Pro720His
NM_001354729.1:c.2147C>A	NP_001341658.1:p.Pro716His
NM_001354730.1:c.1919C>A	NP_001341659.1:p.Pro640His
NR_148950.1:n.2108C>A
NR_148951.1:n.1984C>A
XR_001740256.2:n.2198C>A
XR_002959580.1:n.2198C>A
XR_002959581.1:n.3815C>A
NM_001354727.2:c.2159C>A	NP_001341656.1:p.Pro720His
NM_004628.5:c.2165C>A MANE Select	NP_004619.3:p.Pro722His
NR_148950.2:n.2037C>A
NR_148951.2:n.1913C>A
NM_001354726.2:c.1586C>A	NP_001341655.1:p.Pro529His
NM_001354729.2:c.2147C>A	NP_001341658.1:p.Pro716His
NM_001354730.2:c.1919C>A	NP_001341659.1:p.Pro640His