Canonical Allele Identifier: CA351537734

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190104G>C (hg19) ; chr3:g.14148604G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148604G>C , CM000665.2:g.14148604G>C	GRCh38
NC_000003.11:g.14190104G>C , CM000665.1:g.14190104G>C	GRCh37
NC_000003.10:g.14165105G>C	NCBI36
NG_011763.1:g.35069C>G , LRG_472:g.35069C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2378C>G MANE Select	ENSP00000285021.8:p.Ala793Gly
ENST00000285021.11:c.2378C>G	ENSP00000285021.7:p.Ala793Gly
ENST00000427795.2:n.243C>G
ENST00000476581.6:c.*1831C>G	ENSP00000424548.1:n.*1831C>G
NM_004628.4:c.2378C>G , LRG_472t1:c.2378C>G	NP_004619.3:p.Ala793Gly
NR_027299.1:n.2358C>G
XM_011534092.1:c.2378C>G	XP_011532394.1:p.Ala793Gly
NM_001354726.1:c.1799C>G	NP_001341655.1:p.Ala600Gly
NM_001354727.1:c.2372C>G	NP_001341656.1:p.Ala791Gly
NM_001354729.1:c.2360C>G	NP_001341658.1:p.Ala787Gly
NM_001354730.1:c.2132C>G	NP_001341659.1:p.Ala711Gly
NR_148950.1:n.2321C>G
NR_148951.1:n.2197C>G
XR_001740256.2:n.2411C>G
XR_002959580.1:n.2411C>G
XR_002959581.1:n.4028C>G
NM_001354727.2:c.2372C>G	NP_001341656.1:p.Ala791Gly
NM_004628.5:c.2378C>G MANE Select	NP_004619.3:p.Ala793Gly
NR_148950.2:n.2250C>G
NR_148951.2:n.2126C>G
NM_001354726.2:c.1799C>G	NP_001341655.1:p.Ala600Gly
NM_001354729.2:c.2360C>G	NP_001341658.1:p.Ala787Gly
NM_001354730.2:c.2132C>G	NP_001341659.1:p.Ala711Gly