Canonical Allele Identifier: CA351537824

Gene: XPC

Linked Data

• dbSNP Id: rs748241834
• MyVariant Identifiers: chr3:g.14190149T>G (hg19) ; chr3:g.14148649T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148649T>G , CM000665.2:g.14148649T>G	GRCh38
NC_000003.11:g.14190149T>G , CM000665.1:g.14190149T>G	GRCh37
NC_000003.10:g.14165150T>G	NCBI36
NG_011763.1:g.35024A>C , LRG_472:g.35024A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2333A>C MANE Select	ENSP00000285021.8:p.Asn778Thr
ENST00000285021.11:c.2333A>C	ENSP00000285021.7:p.Asn778Thr
ENST00000427795.2:n.198A>C
ENST00000476581.6:c.*1786A>C	ENSP00000424548.1:n.*1786A>C
NM_004628.4:c.2333A>C , LRG_472t1:c.2333A>C	NP_004619.3:p.Asn778Thr
NR_027299.1:n.2313A>C
XM_011534092.1:c.2333A>C	XP_011532394.1:p.Asn778Thr
NM_001354726.1:c.1754A>C	NP_001341655.1:p.Asn585Thr
NM_001354727.1:c.2327A>C	NP_001341656.1:p.Asn776Thr
NM_001354729.1:c.2315A>C	NP_001341658.1:p.Asn772Thr
NM_001354730.1:c.2087A>C	NP_001341659.1:p.Asn696Thr
NR_148950.1:n.2276A>C
NR_148951.1:n.2152A>C
XR_001740256.2:n.2366A>C
XR_002959580.1:n.2366A>C
XR_002959581.1:n.3983A>C
NM_001354727.2:c.2327A>C	NP_001341656.1:p.Asn776Thr
NM_004628.5:c.2333A>C MANE Select	NP_004619.3:p.Asn778Thr
NR_148950.2:n.2205A>C
NR_148951.2:n.2081A>C
NM_001354726.2:c.1754A>C	NP_001341655.1:p.Asn585Thr
NM_001354729.2:c.2315A>C	NP_001341658.1:p.Asn772Thr
NM_001354730.2:c.2087A>C	NP_001341659.1:p.Asn696Thr