Canonical Allele Identifier: CA432813946

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14199894A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158394A>G , CM000665.2:g.14158394A>G	GRCh38
NC_000003.11:g.14199894A>G , CM000665.1:g.14199894A>G	GRCh37
NC_000003.10:g.14174896A>G	NCBI36
NG_011763.1:g.25279T>C , LRG_472:g.25279T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.1489T>C MANE Select	ENSP00000285021.8:p.Leu497=
ENST00000285021.11:c.1489T>C	ENSP00000285021.7:p.Leu497=
ENST00000476581.6:c.*942T>C	ENSP00000424548.1:n.*942T>C
NM_004628.4:c.1489T>C , LRG_472t1:c.1489T>C	NP_004619.3:p.Leu497=
NR_027299.1:n.1469T>C
XM_011534092.1:c.1489T>C	XP_011532394.1:p.Leu497=
XM_011534093.1:c.1489T>C	XP_011532395.1:p.Leu497=
NM_001354726.1:c.910T>C	NP_001341655.1:p.Leu304=
NM_001354727.1:c.1489T>C	NP_001341656.1:p.Leu497=
NM_001354729.1:c.1471T>C	NP_001341658.1:p.Leu491=
NM_001354730.1:c.1489T>C	NP_001341659.1:p.Leu497=
NR_148950.1:n.1593T>C
NR_148951.1:n.1469T>C
XR_001740256.2:n.1522T>C
XR_002959580.1:n.1522T>C
XR_002959581.1:n.1522T>C
NM_001354727.2:c.1489T>C	NP_001341656.1:p.Leu497=
NM_004628.5:c.1489T>C MANE Select	NP_004619.3:p.Leu497=
NR_148950.2:n.1522T>C
NR_148951.2:n.1398T>C
NM_001354726.2:c.910T>C	NP_001341655.1:p.Leu304=
NM_001354729.2:c.1471T>C	NP_001341658.1:p.Leu491=
NM_001354730.2:c.1489T>C	NP_001341659.1:p.Leu497=