Canonical Allele Identifier: CA69752582

Gene: XPC

Linked Data

• dbSNP Id: rs950231077
• gnomAD v4: 3-14158111-G-A
• MyVariant Identifiers: chr3:g.14199611G>A (hg19) ; chr3:g.14158111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158111G>A , CM000665.2:g.14158111G>A	GRCh38
NC_000003.11:g.14199611G>A , CM000665.1:g.14199611G>A	GRCh37
NC_000003.10:g.14174613G>A	NCBI36
NG_011763.1:g.25562C>T , LRG_472:g.25562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1772C>T MANE Select	ENSP00000285021.8:p.Thr591Ile
ENST00000285021.11:c.1772C>T	ENSP00000285021.7:p.Thr591Ile
ENST00000476581.6:c.*1225C>T	ENSP00000424548.1:n.*1225C>T
NM_004628.4:c.1772C>T , LRG_472t1:c.1772C>T	NP_004619.3:p.Thr591Ile
NR_027299.1:n.1752C>T
XM_011534092.1:c.1772C>T	XP_011532394.1:p.Thr591Ile
XM_011534093.1:c.1772C>T	XP_011532395.1:p.Thr591Ile
NM_001354726.1:c.1193C>T	NP_001341655.1:p.Thr398Ile
NM_001354727.1:c.1772C>T	NP_001341656.1:p.Thr591Ile
NM_001354729.1:c.1754C>T	NP_001341658.1:p.Thr585Ile
NM_001354730.1:c.1626+146C>T	NP_001341659.1:n.1626+146C>T
NR_148950.1:n.1876C>T
NR_148951.1:n.1752C>T
XR_001740256.2:n.1805C>T
XR_002959580.1:n.1805C>T
XR_002959581.1:n.1805C>T
NM_001354727.2:c.1772C>T	NP_001341656.1:p.Thr591Ile
NM_004628.5:c.1772C>T MANE Select	NP_004619.3:p.Thr591Ile
NR_148950.2:n.1805C>T
NR_148951.2:n.1681C>T
NM_001354726.2:c.1193C>T	NP_001341655.1:p.Thr398Ile
NM_001354729.2:c.1754C>T	NP_001341658.1:p.Thr585Ile
NM_001354730.2:c.1626+146C>T	NP_001341659.1:n.1626+146C>T