Canonical Allele Identifier: CA69742439

Gene: XPC

Linked Data

• dbSNP Id: rs982967274
• gnomAD v4: 3-14148866-A-G
• MyVariant Identifiers: chr3:g.14190366A>G (hg19) ; chr3:g.14148866A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148866A>G , CM000665.2:g.14148866A>G	GRCh38
NC_000003.11:g.14190366A>G , CM000665.1:g.14190366A>G	GRCh37
NC_000003.10:g.14165367A>G	NCBI36
NG_011763.1:g.34807T>C , LRG_472:g.34807T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2198T>C MANE Select	ENSP00000285021.8:p.Phe733Ser
ENST00000285021.11:c.2198T>C	ENSP00000285021.7:p.Phe733Ser
ENST00000427795.2:n.63T>C
ENST00000476581.6:c.*1651T>C	ENSP00000424548.1:n.*1651T>C
NM_004628.4:c.2198T>C , LRG_472t1:c.2198T>C	NP_004619.3:p.Phe733Ser
NR_027299.1:n.2178T>C
XM_011534092.1:c.2198T>C	XP_011532394.1:p.Phe733Ser
NM_001354726.1:c.1619T>C	NP_001341655.1:p.Phe540Ser
NM_001354727.1:c.2192T>C	NP_001341656.1:p.Phe731Ser
NM_001354729.1:c.2180T>C	NP_001341658.1:p.Phe727Ser
NM_001354730.1:c.1952T>C	NP_001341659.1:p.Phe651Ser
NR_148950.1:n.2141T>C
NR_148951.1:n.2017T>C
XR_001740256.2:n.2231T>C
XR_002959580.1:n.2231T>C
XR_002959581.1:n.3848T>C
NM_001354727.2:c.2192T>C	NP_001341656.1:p.Phe731Ser
NM_004628.5:c.2198T>C MANE Select	NP_004619.3:p.Phe733Ser
NR_148950.2:n.2070T>C
NR_148951.2:n.1946T>C
NM_001354726.2:c.1619T>C	NP_001341655.1:p.Phe540Ser
NM_001354729.2:c.2180T>C	NP_001341658.1:p.Phe727Ser
NM_001354730.2:c.1952T>C	NP_001341659.1:p.Phe651Ser