Canonical Allele Identifier: CA432813526

Gene: XPC

Linked Data

• dbSNP Id: rs1355912345
• gnomAD v2: 3-14190091-A-G
• gnomAD v4: 3-14148591-A-G
• MyVariant Identifiers: chr3:g.14190091A>G (hg19) ; chr3:g.14148591A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148591A>G , CM000665.2:g.14148591A>G	GRCh38
NC_000003.11:g.14190091A>G , CM000665.1:g.14190091A>G	GRCh37
NC_000003.10:g.14165092A>G	NCBI36
NG_011763.1:g.35082T>C , LRG_472:g.35082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2391T>C MANE Select	ENSP00000285021.8:p.Phe797=
ENST00000285021.11:c.2391T>C	ENSP00000285021.7:p.Phe797=
ENST00000427795.2:n.256T>C
ENST00000476581.6:c.*1844T>C	ENSP00000424548.1:n.*1844T>C
NM_004628.4:c.2391T>C , LRG_472t1:c.2391T>C	NP_004619.3:p.Phe797=
NR_027299.1:n.2371T>C
XM_011534092.1:c.2391T>C	XP_011532394.1:p.Phe797=
NM_001354726.1:c.1812T>C	NP_001341655.1:p.Phe604=
NM_001354727.1:c.2385T>C	NP_001341656.1:p.Phe795=
NM_001354729.1:c.2373T>C	NP_001341658.1:p.Phe791=
NM_001354730.1:c.2145T>C	NP_001341659.1:p.Phe715=
NR_148950.1:n.2334T>C
NR_148951.1:n.2210T>C
XR_001740256.2:n.2424T>C
XR_002959580.1:n.2424T>C
XR_002959581.1:n.4041T>C
NM_001354727.2:c.2385T>C	NP_001341656.1:p.Phe795=
NM_004628.5:c.2391T>C MANE Select	NP_004619.3:p.Phe797=
NR_148950.2:n.2263T>C
NR_148951.2:n.2139T>C
NM_001354726.2:c.1812T>C	NP_001341655.1:p.Phe604=
NM_001354729.2:c.2373T>C	NP_001341658.1:p.Phe791=
NM_001354730.2:c.2145T>C	NP_001341659.1:p.Phe715=