Canonical Allele Identifier: CA351537742

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190107T>G (hg19) ; chr3:g.14148607T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148607T>G , CM000665.2:g.14148607T>G	GRCh38
NC_000003.11:g.14190107T>G , CM000665.1:g.14190107T>G	GRCh37
NC_000003.10:g.14165108T>G	NCBI36
NG_011763.1:g.35066A>C , LRG_472:g.35066A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2375A>C MANE Select	ENSP00000285021.8:p.Gln792Pro
ENST00000285021.11:c.2375A>C	ENSP00000285021.7:p.Gln792Pro
ENST00000427795.2:n.240A>C
ENST00000476581.6:c.*1828A>C	ENSP00000424548.1:n.*1828A>C
NM_004628.4:c.2375A>C , LRG_472t1:c.2375A>C	NP_004619.3:p.Gln792Pro
NR_027299.1:n.2355A>C
XM_011534092.1:c.2375A>C	XP_011532394.1:p.Gln792Pro
NM_001354726.1:c.1796A>C	NP_001341655.1:p.Gln599Pro
NM_001354727.1:c.2369A>C	NP_001341656.1:p.Gln790Pro
NM_001354729.1:c.2357A>C	NP_001341658.1:p.Gln786Pro
NM_001354730.1:c.2129A>C	NP_001341659.1:p.Gln710Pro
NR_148950.1:n.2318A>C
NR_148951.1:n.2194A>C
XR_001740256.2:n.2408A>C
XR_002959580.1:n.2408A>C
XR_002959581.1:n.4025A>C
NM_001354727.2:c.2369A>C	NP_001341656.1:p.Gln790Pro
NM_004628.5:c.2375A>C MANE Select	NP_004619.3:p.Gln792Pro
NR_148950.2:n.2247A>C
NR_148951.2:n.2123A>C
NM_001354726.2:c.1796A>C	NP_001341655.1:p.Gln599Pro
NM_001354729.2:c.2357A>C	NP_001341658.1:p.Gln786Pro
NM_001354730.2:c.2129A>C	NP_001341659.1:p.Gln710Pro