Canonical Allele Identifier: CA351539236

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14199683G>T (hg19) ; chr3:g.14158183G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158183G>T , CM000665.2:g.14158183G>T	GRCh38
NC_000003.11:g.14199683G>T , CM000665.1:g.14199683G>T	GRCh37
NC_000003.10:g.14174685G>T	NCBI36
NG_011763.1:g.25490C>A , LRG_472:g.25490C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1700C>A MANE Select	ENSP00000285021.8:p.Thr567Asn
ENST00000285021.11:c.1700C>A	ENSP00000285021.7:p.Thr567Asn
ENST00000476581.6:c.*1153C>A	ENSP00000424548.1:n.*1153C>A
NM_004628.4:c.1700C>A , LRG_472t1:c.1700C>A	NP_004619.3:p.Thr567Asn
NR_027299.1:n.1680C>A
XM_011534092.1:c.1700C>A	XP_011532394.1:p.Thr567Asn
XM_011534093.1:c.1700C>A	XP_011532395.1:p.Thr567Asn
NM_001354726.1:c.1121C>A	NP_001341655.1:p.Thr374Asn
NM_001354727.1:c.1700C>A	NP_001341656.1:p.Thr567Asn
NM_001354729.1:c.1682C>A	NP_001341658.1:p.Thr561Asn
NM_001354730.1:c.1626+74C>A	NP_001341659.1:n.1626+74C>A
NR_148950.1:n.1804C>A
NR_148951.1:n.1680C>A
XR_001740256.2:n.1733C>A
XR_002959580.1:n.1733C>A
XR_002959581.1:n.1733C>A
NM_001354727.2:c.1700C>A	NP_001341656.1:p.Thr567Asn
NM_004628.5:c.1700C>A MANE Select	NP_004619.3:p.Thr567Asn
NR_148950.2:n.1733C>A
NR_148951.2:n.1609C>A
NM_001354726.2:c.1121C>A	NP_001341655.1:p.Thr374Asn
NM_001354729.2:c.1682C>A	NP_001341658.1:p.Thr561Asn
NM_001354730.2:c.1626+74C>A	NP_001341659.1:n.1626+74C>A