Canonical Allele Identifier: CA2267171

Gene: XPC

Linked Data

• dbSNP Id: rs763252584
• ExAC: 3:14190103 G / A
• gnomAD v2: 3-14190103-G-A
• MyVariant Identifiers: chr3:g.14190103G>A (hg19) ; chr3:g.14148603G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148603G>A , CM000665.2:g.14148603G>A	GRCh38
NC_000003.11:g.14190103G>A , CM000665.1:g.14190103G>A	GRCh37
NC_000003.10:g.14165104G>A	NCBI36
NG_011763.1:g.35070C>T , LRG_472:g.35070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2379C>T MANE Select	ENSP00000285021.8:p.Ala793=
ENST00000285021.11:c.2379C>T	ENSP00000285021.7:p.Ala793=
ENST00000427795.2:n.244C>T
ENST00000476581.6:c.*1832C>T	ENSP00000424548.1:n.*1832C>T
NM_004628.4:c.2379C>T , LRG_472t1:c.2379C>T	NP_004619.3:p.Ala793=
NR_027299.1:n.2359C>T
XM_011534092.1:c.2379C>T	XP_011532394.1:p.Ala793=
NM_001354726.1:c.1800C>T	NP_001341655.1:p.Ala600=
NM_001354727.1:c.2373C>T	NP_001341656.1:p.Ala791=
NM_001354729.1:c.2361C>T	NP_001341658.1:p.Ala787=
NM_001354730.1:c.2133C>T	NP_001341659.1:p.Ala711=
NR_148950.1:n.2322C>T
NR_148951.1:n.2198C>T
XR_001740256.2:n.2412C>T
XR_002959580.1:n.2412C>T
XR_002959581.1:n.4029C>T
NM_001354727.2:c.2373C>T	NP_001341656.1:p.Ala791=
NM_004628.5:c.2379C>T MANE Select	NP_004619.3:p.Ala793=
NR_148950.2:n.2251C>T
NR_148951.2:n.2127C>T
NM_001354726.2:c.1800C>T	NP_001341655.1:p.Ala600=
NM_001354729.2:c.2361C>T	NP_001341658.1:p.Ala787=
NM_001354730.2:c.2133C>T	NP_001341659.1:p.Ala711=