Canonical Allele Identifier: CA432569731

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14199589A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158089A>G , CM000665.2:g.14158089A>G	GRCh38
NC_000003.11:g.14199589A>G , CM000665.1:g.14199589A>G	GRCh37
NC_000003.10:g.14174591A>G	NCBI36
NG_011763.1:g.25584T>C , LRG_472:g.25584T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1794T>C MANE Select	ENSP00000285021.8:p.Val598=
ENST00000285021.11:c.1794T>C	ENSP00000285021.7:p.Val598=
ENST00000476581.6:c.*1247T>C	ENSP00000424548.1:n.*1247T>C
NM_004628.4:c.1794T>C , LRG_472t1:c.1794T>C	NP_004619.3:p.Val598=
NR_027299.1:n.1774T>C
XM_011534092.1:c.1794T>C	XP_011532394.1:p.Val598=
XM_011534093.1:c.1794T>C	XP_011532395.1:p.Val598=
NM_001354726.1:c.1215T>C	NP_001341655.1:p.Val405=
NM_001354727.1:c.1794T>C	NP_001341656.1:p.Val598=
NM_001354729.1:c.1776T>C	NP_001341658.1:p.Val592=
NM_001354730.1:c.1626+168T>C	NP_001341659.1:n.1626+168T>C
NR_148950.1:n.1898T>C
NR_148951.1:n.1774T>C
XR_001740256.2:n.1827T>C
XR_002959580.1:n.1827T>C
XR_002959581.1:n.1827T>C
NM_001354727.2:c.1794T>C	NP_001341656.1:p.Val598=
NM_004628.5:c.1794T>C MANE Select	NP_004619.3:p.Val598=
NR_148950.2:n.1827T>C
NR_148951.2:n.1703T>C
NM_001354726.2:c.1215T>C	NP_001341655.1:p.Val405=
NM_001354729.2:c.1776T>C	NP_001341658.1:p.Val592=
NM_001354730.2:c.1626+168T>C	NP_001341659.1:n.1626+168T>C