Canonical Allele Identifier: CA2267367

Gene: XPC

Linked Data

• dbSNP Id: rs755168872
• ExAC: 3:14199618 A / C
• gnomAD v2: 3-14199618-A-C
• gnomAD v4: 3-14158118-A-C
• MyVariant Identifiers: chr3:g.14199618A>C (hg19) ; chr3:g.14158118A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158118A>C , CM000665.2:g.14158118A>C	GRCh38
NC_000003.11:g.14199618A>C , CM000665.1:g.14199618A>C	GRCh37
NC_000003.10:g.14174620A>C	NCBI36
NG_011763.1:g.25555T>G , LRG_472:g.25555T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1765T>G MANE Select	ENSP00000285021.8:p.Trp589Gly
ENST00000285021.11:c.1765T>G	ENSP00000285021.7:p.Trp589Gly
ENST00000476581.6:c.*1218T>G	ENSP00000424548.1:n.*1218T>G
NM_004628.4:c.1765T>G , LRG_472t1:c.1765T>G	NP_004619.3:p.Trp589Gly
NR_027299.1:n.1745T>G
XM_011534092.1:c.1765T>G	XP_011532394.1:p.Trp589Gly
XM_011534093.1:c.1765T>G	XP_011532395.1:p.Trp589Gly
NM_001354726.1:c.1186T>G	NP_001341655.1:p.Trp396Gly
NM_001354727.1:c.1765T>G	NP_001341656.1:p.Trp589Gly
NM_001354729.1:c.1747T>G	NP_001341658.1:p.Trp583Gly
NM_001354730.1:c.1626+139T>G	NP_001341659.1:n.1626+139T>G
NR_148950.1:n.1869T>G
NR_148951.1:n.1745T>G
XR_001740256.2:n.1798T>G
XR_002959580.1:n.1798T>G
XR_002959581.1:n.1798T>G
NM_001354727.2:c.1765T>G	NP_001341656.1:p.Trp589Gly
NM_004628.5:c.1765T>G MANE Select	NP_004619.3:p.Trp589Gly
NR_148950.2:n.1798T>G
NR_148951.2:n.1674T>G
NM_001354726.2:c.1186T>G	NP_001341655.1:p.Trp396Gly
NM_001354729.2:c.1747T>G	NP_001341658.1:p.Trp583Gly
NM_001354730.2:c.1626+139T>G	NP_001341659.1:n.1626+139T>G