Canonical Allele Identifier: CA351537981

Gene: XPC

Linked Data

• gnomAD v4: 3-14148720-G-T
• MyVariant Identifiers: chr3:g.14190220G>T (hg19) ; chr3:g.14148720G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148720G>T , CM000665.2:g.14148720G>T	GRCh38
NC_000003.11:g.14190220G>T , CM000665.1:g.14190220G>T	GRCh37
NC_000003.10:g.14165221G>T	NCBI36
NG_011763.1:g.34953C>A , LRG_472:g.34953C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2262C>A MANE Select	ENSP00000285021.8:p.Asn754Lys
ENST00000285021.11:c.2262C>A	ENSP00000285021.7:p.Asn754Lys
ENST00000427795.2:n.127C>A
ENST00000476581.6:c.*1715C>A	ENSP00000424548.1:n.*1715C>A
NM_004628.4:c.2262C>A , LRG_472t1:c.2262C>A	NP_004619.3:p.Asn754Lys
NR_027299.1:n.2242C>A
XM_011534092.1:c.2262C>A	XP_011532394.1:p.Asn754Lys
NM_001354726.1:c.1683C>A	NP_001341655.1:p.Asn561Lys
NM_001354727.1:c.2256C>A	NP_001341656.1:p.Asn752Lys
NM_001354729.1:c.2244C>A	NP_001341658.1:p.Asn748Lys
NM_001354730.1:c.2016C>A	NP_001341659.1:p.Asn672Lys
NR_148950.1:n.2205C>A
NR_148951.1:n.2081C>A
XR_001740256.2:n.2295C>A
XR_002959580.1:n.2295C>A
XR_002959581.1:n.3912C>A
NM_001354727.2:c.2256C>A	NP_001341656.1:p.Asn752Lys
NM_004628.5:c.2262C>A MANE Select	NP_004619.3:p.Asn754Lys
NR_148950.2:n.2134C>A
NR_148951.2:n.2010C>A
NM_001354726.2:c.1683C>A	NP_001341655.1:p.Asn561Lys
NM_001354729.2:c.2244C>A	NP_001341658.1:p.Asn748Lys
NM_001354730.2:c.2016C>A	NP_001341659.1:p.Asn672Lys