Canonical Allele Identifier: CA432569534

Gene: XPC

Linked Data

• gnomAD v4: 3-14158044-T-A
• MyVariant Identifiers: chr3:g.14199544T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158044T>A , CM000665.2:g.14158044T>A	GRCh38
NC_000003.11:g.14199544T>A , CM000665.1:g.14199544T>A	GRCh37
NC_000003.10:g.14174546T>A	NCBI36
NG_011763.1:g.25629A>T , LRG_472:g.25629A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1839A>T MANE Select	ENSP00000285021.8:p.Pro613=
ENST00000285021.11:c.1839A>T	ENSP00000285021.7:p.Pro613=
ENST00000476581.6:c.*1292A>T	ENSP00000424548.1:n.*1292A>T
NM_004628.4:c.1839A>T , LRG_472t1:c.1839A>T	NP_004619.3:p.Pro613=
NR_027299.1:n.1819A>T
XM_011534092.1:c.1839A>T	XP_011532394.1:p.Pro613=
XM_011534093.1:c.1839A>T	XP_011532395.1:p.Pro613=
NM_001354726.1:c.1260A>T	NP_001341655.1:p.Pro420=
NM_001354727.1:c.1839A>T	NP_001341656.1:p.Pro613=
NM_001354729.1:c.1821A>T	NP_001341658.1:p.Pro607=
NM_001354730.1:c.1626+213A>T	NP_001341659.1:n.1626+213A>T
NR_148950.1:n.1943A>T
NR_148951.1:n.1819A>T
XR_001740256.2:n.1872A>T
XR_002959580.1:n.1872A>T
XR_002959581.1:n.1872A>T
NM_001354727.2:c.1839A>T	NP_001341656.1:p.Pro613=
NM_004628.5:c.1839A>T MANE Select	NP_004619.3:p.Pro613=
NR_148950.2:n.1872A>T
NR_148951.2:n.1748A>T
NM_001354726.2:c.1260A>T	NP_001341655.1:p.Pro420=
NM_001354729.2:c.1821A>T	NP_001341658.1:p.Pro607=
NM_001354730.2:c.1626+213A>T	NP_001341659.1:n.1626+213A>T