Canonical Allele Identifier: CA432569798

Gene: XPC

Linked Data

• gnomAD v4: 3-14158140-G-C
• MyVariant Identifiers: chr3:g.14199640G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158140G>C , CM000665.2:g.14158140G>C	GRCh38
NC_000003.11:g.14199640G>C , CM000665.1:g.14199640G>C	GRCh37
NC_000003.10:g.14174642G>C	NCBI36
NG_011763.1:g.25533C>G , LRG_472:g.25533C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1743C>G MANE Select	ENSP00000285021.8:p.Val581=
ENST00000285021.11:c.1743C>G	ENSP00000285021.7:p.Val581=
ENST00000476581.6:c.*1196C>G	ENSP00000424548.1:n.*1196C>G
NM_004628.4:c.1743C>G , LRG_472t1:c.1743C>G	NP_004619.3:p.Val581=
NR_027299.1:n.1723C>G
XM_011534092.1:c.1743C>G	XP_011532394.1:p.Val581=
XM_011534093.1:c.1743C>G	XP_011532395.1:p.Val581=
NM_001354726.1:c.1164C>G	NP_001341655.1:p.Val388=
NM_001354727.1:c.1743C>G	NP_001341656.1:p.Val581=
NM_001354729.1:c.1725C>G	NP_001341658.1:p.Val575=
NM_001354730.1:c.1626+117C>G	NP_001341659.1:n.1626+117C>G
NR_148950.1:n.1847C>G
NR_148951.1:n.1723C>G
XR_001740256.2:n.1776C>G
XR_002959580.1:n.1776C>G
XR_002959581.1:n.1776C>G
NM_001354727.2:c.1743C>G	NP_001341656.1:p.Val581=
NM_004628.5:c.1743C>G MANE Select	NP_004619.3:p.Val581=
NR_148950.2:n.1776C>G
NR_148951.2:n.1652C>G
NM_001354726.2:c.1164C>G	NP_001341655.1:p.Val388=
NM_001354729.2:c.1725C>G	NP_001341658.1:p.Val575=
NM_001354730.2:c.1626+117C>G	NP_001341659.1:n.1626+117C>G