Canonical Allele Identifier: CA351538030

Gene: XPC

Linked Data

• dbSNP Id: rs1574950305
• MyVariant Identifiers: chr3:g.14190324A>C (hg19) ; chr3:g.14148824A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148824A>C , CM000665.2:g.14148824A>C	GRCh38
NC_000003.11:g.14190324A>C , CM000665.1:g.14190324A>C	GRCh37
NC_000003.10:g.14165325A>C	NCBI36
NG_011763.1:g.34849T>G , LRG_472:g.34849T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2240T>G MANE Select	ENSP00000285021.8:p.Val747Gly
ENST00000285021.11:c.2240T>G	ENSP00000285021.7:p.Val747Gly
ENST00000427795.2:n.105T>G
ENST00000476581.6:c.*1693T>G	ENSP00000424548.1:n.*1693T>G
NM_004628.4:c.2240T>G , LRG_472t1:c.2240T>G	NP_004619.3:p.Val747Gly
NR_027299.1:n.2220T>G
XM_011534092.1:c.2240T>G	XP_011532394.1:p.Val747Gly
NM_001354726.1:c.1661T>G	NP_001341655.1:p.Val554Gly
NM_001354727.1:c.2234T>G	NP_001341656.1:p.Val745Gly
NM_001354729.1:c.2222T>G	NP_001341658.1:p.Val741Gly
NM_001354730.1:c.1994T>G	NP_001341659.1:p.Val665Gly
NR_148950.1:n.2183T>G
NR_148951.1:n.2059T>G
XR_001740256.2:n.2273T>G
XR_002959580.1:n.2273T>G
XR_002959581.1:n.3890T>G
NM_001354727.2:c.2234T>G	NP_001341656.1:p.Val745Gly
NM_004628.5:c.2240T>G MANE Select	NP_004619.3:p.Val747Gly
NR_148950.2:n.2112T>G
NR_148951.2:n.1988T>G
NM_001354726.2:c.1661T>G	NP_001341655.1:p.Val554Gly
NM_001354729.2:c.2222T>G	NP_001341658.1:p.Val741Gly
NM_001354730.2:c.1994T>G	NP_001341659.1:p.Val665Gly