Canonical Allele Identifier: CA351538225

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190417T>A (hg19) ; chr3:g.14148917T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148917T>A , CM000665.2:g.14148917T>A	GRCh38
NC_000003.11:g.14190417T>A , CM000665.1:g.14190417T>A	GRCh37
NC_000003.10:g.14165418T>A	NCBI36
NG_011763.1:g.34756A>T , LRG_472:g.34756A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2147A>T MANE Select	ENSP00000285021.8:p.Lys716Ile
ENST00000285021.11:c.2147A>T	ENSP00000285021.7:p.Lys716Ile
ENST00000427795.2:n.12A>T
ENST00000476581.6:c.*1600A>T	ENSP00000424548.1:n.*1600A>T
NM_004628.4:c.2147A>T , LRG_472t1:c.2147A>T	NP_004619.3:p.Lys716Ile
NR_027299.1:n.2127A>T
XM_011534092.1:c.2147A>T	XP_011532394.1:p.Lys716Ile
NM_001354726.1:c.1568A>T	NP_001341655.1:p.Lys523Ile
NM_001354727.1:c.2141A>T	NP_001341656.1:p.Lys714Ile
NM_001354729.1:c.2129A>T	NP_001341658.1:p.Lys710Ile
NM_001354730.1:c.1901A>T	NP_001341659.1:p.Lys634Ile
NR_148950.1:n.2090A>T
NR_148951.1:n.1966A>T
XR_001740256.2:n.2180A>T
XR_002959580.1:n.2180A>T
XR_002959581.1:n.3797A>T
NM_001354727.2:c.2141A>T	NP_001341656.1:p.Lys714Ile
NM_004628.5:c.2147A>T MANE Select	NP_004619.3:p.Lys716Ile
NR_148950.2:n.2019A>T
NR_148951.2:n.1895A>T
NM_001354726.2:c.1568A>T	NP_001341655.1:p.Lys523Ile
NM_001354729.2:c.2129A>T	NP_001341658.1:p.Lys710Ile
NM_001354730.2:c.1901A>T	NP_001341659.1:p.Lys634Ile