Canonical Allele Identifier: CA351538177

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190390C>A (hg19) ; chr3:g.14148890C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148890C>A , CM000665.2:g.14148890C>A	GRCh38
NC_000003.11:g.14190390C>A , CM000665.1:g.14190390C>A	GRCh37
NC_000003.10:g.14165391C>A	NCBI36
NG_011763.1:g.34783G>T , LRG_472:g.34783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2174G>T MANE Select	ENSP00000285021.8:p.Arg725Leu
ENST00000285021.11:c.2174G>T	ENSP00000285021.7:p.Arg725Leu
ENST00000427795.2:n.39G>T
ENST00000476581.6:c.*1627G>T	ENSP00000424548.1:n.*1627G>T
NM_004628.4:c.2174G>T , LRG_472t1:c.2174G>T	NP_004619.3:p.Arg725Leu
NR_027299.1:n.2154G>T
XM_011534092.1:c.2174G>T	XP_011532394.1:p.Arg725Leu
NM_001354726.1:c.1595G>T	NP_001341655.1:p.Arg532Leu
NM_001354727.1:c.2168G>T	NP_001341656.1:p.Arg723Leu
NM_001354729.1:c.2156G>T	NP_001341658.1:p.Arg719Leu
NM_001354730.1:c.1928G>T	NP_001341659.1:p.Arg643Leu
NR_148950.1:n.2117G>T
NR_148951.1:n.1993G>T
XR_001740256.2:n.2207G>T
XR_002959580.1:n.2207G>T
XR_002959581.1:n.3824G>T
NM_001354727.2:c.2168G>T	NP_001341656.1:p.Arg723Leu
NM_004628.5:c.2174G>T MANE Select	NP_004619.3:p.Arg725Leu
NR_148950.2:n.2046G>T
NR_148951.2:n.1922G>T
NM_001354726.2:c.1595G>T	NP_001341655.1:p.Arg532Leu
NM_001354729.2:c.2156G>T	NP_001341658.1:p.Arg719Leu
NM_001354730.2:c.1928G>T	NP_001341659.1:p.Arg643Leu