Canonical Allele Identifier: CA2267184

Gene: XPC

Linked Data

• dbSNP Id: rs781326758
• ExAC: 3:14190144 G / A
• gnomAD v2: 3-14190144-G-A
• gnomAD v4: 3-14148644-G-A
• MyVariant Identifiers: chr3:g.14190144G>A (hg19) ; chr3:g.14148644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148644G>A , CM000665.2:g.14148644G>A	GRCh38
NC_000003.11:g.14190144G>A , CM000665.1:g.14190144G>A	GRCh37
NC_000003.10:g.14165145G>A	NCBI36
NG_011763.1:g.35029C>T , LRG_472:g.35029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2338C>T MANE Select	ENSP00000285021.8:p.His780Tyr
ENST00000285021.11:c.2338C>T	ENSP00000285021.7:p.His780Tyr
ENST00000427795.2:n.203C>T
ENST00000476581.6:c.*1791C>T	ENSP00000424548.1:n.*1791C>T
NM_004628.4:c.2338C>T , LRG_472t1:c.2338C>T	NP_004619.3:p.His780Tyr
NR_027299.1:n.2318C>T
XM_011534092.1:c.2338C>T	XP_011532394.1:p.His780Tyr
NM_001354726.1:c.1759C>T	NP_001341655.1:p.His587Tyr
NM_001354727.1:c.2332C>T	NP_001341656.1:p.His778Tyr
NM_001354729.1:c.2320C>T	NP_001341658.1:p.His774Tyr
NM_001354730.1:c.2092C>T	NP_001341659.1:p.His698Tyr
NR_148950.1:n.2281C>T
NR_148951.1:n.2157C>T
XR_001740256.2:n.2371C>T
XR_002959580.1:n.2371C>T
XR_002959581.1:n.3988C>T
NM_001354727.2:c.2332C>T	NP_001341656.1:p.His778Tyr
NM_004628.5:c.2338C>T MANE Select	NP_004619.3:p.His780Tyr
NR_148950.2:n.2210C>T
NR_148951.2:n.2086C>T
NM_001354726.2:c.1759C>T	NP_001341655.1:p.His587Tyr
NM_001354729.2:c.2320C>T	NP_001341658.1:p.His774Tyr
NM_001354730.2:c.2092C>T	NP_001341659.1:p.His698Tyr