Canonical Allele Identifier: CA351538059

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190338C>G (hg19) ; chr3:g.14148838C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148838C>G , CM000665.2:g.14148838C>G	GRCh38
NC_000003.11:g.14190338C>G , CM000665.1:g.14190338C>G	GRCh37
NC_000003.10:g.14165339C>G	NCBI36
NG_011763.1:g.34835G>C , LRG_472:g.34835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2226G>C MANE Select	ENSP00000285021.8:p.Gln742His
ENST00000285021.11:c.2226G>C	ENSP00000285021.7:p.Gln742His
ENST00000427795.2:n.91G>C
ENST00000476581.6:c.*1679G>C	ENSP00000424548.1:n.*1679G>C
NM_004628.4:c.2226G>C , LRG_472t1:c.2226G>C	NP_004619.3:p.Gln742His
NR_027299.1:n.2206G>C
XM_011534092.1:c.2226G>C	XP_011532394.1:p.Gln742His
NM_001354726.1:c.1647G>C	NP_001341655.1:p.Gln549His
NM_001354727.1:c.2220G>C	NP_001341656.1:p.Gln740His
NM_001354729.1:c.2208G>C	NP_001341658.1:p.Gln736His
NM_001354730.1:c.1980G>C	NP_001341659.1:p.Gln660His
NR_148950.1:n.2169G>C
NR_148951.1:n.2045G>C
XR_001740256.2:n.2259G>C
XR_002959580.1:n.2259G>C
XR_002959581.1:n.3876G>C
NM_001354727.2:c.2220G>C	NP_001341656.1:p.Gln740His
NM_004628.5:c.2226G>C MANE Select	NP_004619.3:p.Gln742His
NR_148950.2:n.2098G>C
NR_148951.2:n.1974G>C
NM_001354726.2:c.1647G>C	NP_001341655.1:p.Gln549His
NM_001354729.2:c.2208G>C	NP_001341658.1:p.Gln736His
NM_001354730.2:c.1980G>C	NP_001341659.1:p.Gln660His