Canonical Allele Identifier: CA351537822

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190148A>T (hg19) ; chr3:g.14148648A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148648A>T , CM000665.2:g.14148648A>T	GRCh38
NC_000003.11:g.14190148A>T , CM000665.1:g.14190148A>T	GRCh37
NC_000003.10:g.14165149A>T	NCBI36
NG_011763.1:g.35025T>A , LRG_472:g.35025T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.2334T>A MANE Select	ENSP00000285021.8:p.Asn778Lys
ENST00000285021.11:c.2334T>A	ENSP00000285021.7:p.Asn778Lys
ENST00000427795.2:n.199T>A
ENST00000476581.6:c.*1787T>A	ENSP00000424548.1:n.*1787T>A
NM_004628.4:c.2334T>A , LRG_472t1:c.2334T>A	NP_004619.3:p.Asn778Lys
NR_027299.1:n.2314T>A
XM_011534092.1:c.2334T>A	XP_011532394.1:p.Asn778Lys
NM_001354726.1:c.1755T>A	NP_001341655.1:p.Asn585Lys
NM_001354727.1:c.2328T>A	NP_001341656.1:p.Asn776Lys
NM_001354729.1:c.2316T>A	NP_001341658.1:p.Asn772Lys
NM_001354730.1:c.2088T>A	NP_001341659.1:p.Asn696Lys
NR_148950.1:n.2277T>A
NR_148951.1:n.2153T>A
XR_001740256.2:n.2367T>A
XR_002959580.1:n.2367T>A
XR_002959581.1:n.3984T>A
NM_001354727.2:c.2328T>A	NP_001341656.1:p.Asn776Lys
NM_004628.5:c.2334T>A MANE Select	NP_004619.3:p.Asn778Lys
NR_148950.2:n.2206T>A
NR_148951.2:n.2082T>A
NM_001354726.2:c.1755T>A	NP_001341655.1:p.Asn585Lys
NM_001354729.2:c.2316T>A	NP_001341658.1:p.Asn772Lys
NM_001354730.2:c.2088T>A	NP_001341659.1:p.Asn696Lys