Canonical Allele Identifier: CA351538243

Gene: XPC

Linked Data

• gnomAD v4: 3-14148928-G-C
• MyVariant Identifiers: chr3:g.14190428G>C (hg19) ; chr3:g.14148928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148928G>C , CM000665.2:g.14148928G>C	GRCh38
NC_000003.11:g.14190428G>C , CM000665.1:g.14190428G>C	GRCh37
NC_000003.10:g.14165429G>C	NCBI36
NG_011763.1:g.34745C>G , LRG_472:g.34745C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2136C>G MANE Select	ENSP00000285021.8:p.Asn712Lys
ENST00000285021.11:c.2136C>G	ENSP00000285021.7:p.Asn712Lys
ENST00000427795.2:n.1C>G
ENST00000476581.6:c.*1589C>G	ENSP00000424548.1:n.*1589C>G
NM_004628.4:c.2136C>G , LRG_472t1:c.2136C>G	NP_004619.3:p.Asn712Lys
NR_027299.1:n.2116C>G
XM_011534092.1:c.2136C>G	XP_011532394.1:p.Asn712Lys
NM_001354726.1:c.1557C>G	NP_001341655.1:p.Asn519Lys
NM_001354727.1:c.2130C>G	NP_001341656.1:p.Asn710Lys
NM_001354729.1:c.2118C>G	NP_001341658.1:p.Asn706Lys
NM_001354730.1:c.1890C>G	NP_001341659.1:p.Asn630Lys
NR_148950.1:n.2079C>G
NR_148951.1:n.1955C>G
XR_001740256.2:n.2169C>G
XR_002959580.1:n.2169C>G
XR_002959581.1:n.3786C>G
NM_001354727.2:c.2130C>G	NP_001341656.1:p.Asn710Lys
NM_004628.5:c.2136C>G MANE Select	NP_004619.3:p.Asn712Lys
NR_148950.2:n.2008C>G
NR_148951.2:n.1884C>G
NM_001354726.2:c.1557C>G	NP_001341655.1:p.Asn519Lys
NM_001354729.2:c.2118C>G	NP_001341658.1:p.Asn706Lys
NM_001354730.2:c.1890C>G	NP_001341659.1:p.Asn630Lys