Canonical Allele Identifier: CA351537786

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190127C>G (hg19) ; chr3:g.14148627C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148627C>G , CM000665.2:g.14148627C>G	GRCh38
NC_000003.11:g.14190127C>G , CM000665.1:g.14190127C>G	GRCh37
NC_000003.10:g.14165128C>G	NCBI36
NG_011763.1:g.35046G>C , LRG_472:g.35046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2355G>C MANE Select	ENSP00000285021.8:p.Lys785Asn
ENST00000285021.11:c.2355G>C	ENSP00000285021.7:p.Lys785Asn
ENST00000427795.2:n.220G>C
ENST00000476581.6:c.*1808G>C	ENSP00000424548.1:n.*1808G>C
NM_004628.4:c.2355G>C , LRG_472t1:c.2355G>C	NP_004619.3:p.Lys785Asn
NR_027299.1:n.2335G>C
XM_011534092.1:c.2355G>C	XP_011532394.1:p.Lys785Asn
NM_001354726.1:c.1776G>C	NP_001341655.1:p.Lys592Asn
NM_001354727.1:c.2349G>C	NP_001341656.1:p.Lys783Asn
NM_001354729.1:c.2337G>C	NP_001341658.1:p.Lys779Asn
NM_001354730.1:c.2109G>C	NP_001341659.1:p.Lys703Asn
NR_148950.1:n.2298G>C
NR_148951.1:n.2174G>C
XR_001740256.2:n.2388G>C
XR_002959580.1:n.2388G>C
XR_002959581.1:n.4005G>C
NM_001354727.2:c.2349G>C	NP_001341656.1:p.Lys783Asn
NM_004628.5:c.2355G>C MANE Select	NP_004619.3:p.Lys785Asn
NR_148950.2:n.2227G>C
NR_148951.2:n.2103G>C
NM_001354726.2:c.1776G>C	NP_001341655.1:p.Lys592Asn
NM_001354729.2:c.2337G>C	NP_001341658.1:p.Lys779Asn
NM_001354730.2:c.2109G>C	NP_001341659.1:p.Lys703Asn