Canonical Allele Identifier: CA351538060

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190339T>A (hg19) ; chr3:g.14148839T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148839T>A , CM000665.2:g.14148839T>A	GRCh38
NC_000003.11:g.14190339T>A , CM000665.1:g.14190339T>A	GRCh37
NC_000003.10:g.14165340T>A	NCBI36
NG_011763.1:g.34834A>T , LRG_472:g.34834A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2225A>T MANE Select	ENSP00000285021.8:p.Gln742Leu
ENST00000285021.11:c.2225A>T	ENSP00000285021.7:p.Gln742Leu
ENST00000427795.2:n.90A>T
ENST00000476581.6:c.*1678A>T	ENSP00000424548.1:n.*1678A>T
NM_004628.4:c.2225A>T , LRG_472t1:c.2225A>T	NP_004619.3:p.Gln742Leu
NR_027299.1:n.2205A>T
XM_011534092.1:c.2225A>T	XP_011532394.1:p.Gln742Leu
NM_001354726.1:c.1646A>T	NP_001341655.1:p.Gln549Leu
NM_001354727.1:c.2219A>T	NP_001341656.1:p.Gln740Leu
NM_001354729.1:c.2207A>T	NP_001341658.1:p.Gln736Leu
NM_001354730.1:c.1979A>T	NP_001341659.1:p.Gln660Leu
NR_148950.1:n.2168A>T
NR_148951.1:n.2044A>T
XR_001740256.2:n.2258A>T
XR_002959580.1:n.2258A>T
XR_002959581.1:n.3875A>T
NM_001354727.2:c.2219A>T	NP_001341656.1:p.Gln740Leu
NM_004628.5:c.2225A>T MANE Select	NP_004619.3:p.Gln742Leu
NR_148950.2:n.2097A>T
NR_148951.2:n.1973A>T
NM_001354726.2:c.1646A>T	NP_001341655.1:p.Gln549Leu
NM_001354729.2:c.2207A>T	NP_001341658.1:p.Gln736Leu
NM_001354730.2:c.1979A>T	NP_001341659.1:p.Gln660Leu