Canonical Allele Identifier: CA351537779

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190123C>T (hg19) ; chr3:g.14148623C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148623C>T , CM000665.2:g.14148623C>T	GRCh38
NC_000003.11:g.14190123C>T , CM000665.1:g.14190123C>T	GRCh37
NC_000003.10:g.14165124C>T	NCBI36
NG_011763.1:g.35050G>A , LRG_472:g.35050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2359G>A MANE Select	ENSP00000285021.8:p.Asp787Asn
ENST00000285021.11:c.2359G>A	ENSP00000285021.7:p.Asp787Asn
ENST00000427795.2:n.224G>A
ENST00000476581.6:c.*1812G>A	ENSP00000424548.1:n.*1812G>A
NM_004628.4:c.2359G>A , LRG_472t1:c.2359G>A	NP_004619.3:p.Asp787Asn
NR_027299.1:n.2339G>A
XM_011534092.1:c.2359G>A	XP_011532394.1:p.Asp787Asn
NM_001354726.1:c.1780G>A	NP_001341655.1:p.Asp594Asn
NM_001354727.1:c.2353G>A	NP_001341656.1:p.Asp785Asn
NM_001354729.1:c.2341G>A	NP_001341658.1:p.Asp781Asn
NM_001354730.1:c.2113G>A	NP_001341659.1:p.Asp705Asn
NR_148950.1:n.2302G>A
NR_148951.1:n.2178G>A
XR_001740256.2:n.2392G>A
XR_002959580.1:n.2392G>A
XR_002959581.1:n.4009G>A
NM_001354727.2:c.2353G>A	NP_001341656.1:p.Asp785Asn
NM_004628.5:c.2359G>A MANE Select	NP_004619.3:p.Asp787Asn
NR_148950.2:n.2231G>A
NR_148951.2:n.2107G>A
NM_001354726.2:c.1780G>A	NP_001341655.1:p.Asp594Asn
NM_001354729.2:c.2341G>A	NP_001341658.1:p.Asp781Asn
NM_001354730.2:c.2113G>A	NP_001341659.1:p.Asp705Asn