Canonical Allele Identifier: CA351539109

Gene: XPC

Linked Data

• dbSNP Id: rs1462722182
• gnomAD v2: 3-14199624-G-A
• gnomAD v4: 3-14158124-G-A
• MyVariant Identifiers: chr3:g.14199624G>A (hg19) ; chr3:g.14158124G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158124G>A , CM000665.2:g.14158124G>A	GRCh38
NC_000003.11:g.14199624G>A , CM000665.1:g.14199624G>A	GRCh37
NC_000003.10:g.14174626G>A	NCBI36
NG_011763.1:g.25549C>T , LRG_472:g.25549C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1759C>T MANE Select	ENSP00000285021.8:p.Pro587Ser
ENST00000285021.11:c.1759C>T	ENSP00000285021.7:p.Pro587Ser
ENST00000476581.6:c.*1212C>T	ENSP00000424548.1:n.*1212C>T
NM_004628.4:c.1759C>T , LRG_472t1:c.1759C>T	NP_004619.3:p.Pro587Ser
NR_027299.1:n.1739C>T
XM_011534092.1:c.1759C>T	XP_011532394.1:p.Pro587Ser
XM_011534093.1:c.1759C>T	XP_011532395.1:p.Pro587Ser
NM_001354726.1:c.1180C>T	NP_001341655.1:p.Pro394Ser
NM_001354727.1:c.1759C>T	NP_001341656.1:p.Pro587Ser
NM_001354729.1:c.1741C>T	NP_001341658.1:p.Pro581Ser
NM_001354730.1:c.1626+133C>T	NP_001341659.1:n.1626+133C>T
NR_148950.1:n.1863C>T
NR_148951.1:n.1739C>T
XR_001740256.2:n.1792C>T
XR_002959580.1:n.1792C>T
XR_002959581.1:n.1792C>T
NM_001354727.2:c.1759C>T	NP_001341656.1:p.Pro587Ser
NM_004628.5:c.1759C>T MANE Select	NP_004619.3:p.Pro587Ser
NR_148950.2:n.1792C>T
NR_148951.2:n.1668C>T
NM_001354726.2:c.1180C>T	NP_001341655.1:p.Pro394Ser
NM_001354729.2:c.1741C>T	NP_001341658.1:p.Pro581Ser
NM_001354730.2:c.1626+133C>T	NP_001341659.1:n.1626+133C>T