Canonical Allele Identifier: CA351537783

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190126G>C (hg19) ; chr3:g.14148626G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148626G>C , CM000665.2:g.14148626G>C	GRCh38
NC_000003.11:g.14190126G>C , CM000665.1:g.14190126G>C	GRCh37
NC_000003.10:g.14165127G>C	NCBI36
NG_011763.1:g.35047C>G , LRG_472:g.35047C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2356C>G MANE Select	ENSP00000285021.8:p.Leu786Val
ENST00000285021.11:c.2356C>G	ENSP00000285021.7:p.Leu786Val
ENST00000427795.2:n.221C>G
ENST00000476581.6:c.*1809C>G	ENSP00000424548.1:n.*1809C>G
NM_004628.4:c.2356C>G , LRG_472t1:c.2356C>G	NP_004619.3:p.Leu786Val
NR_027299.1:n.2336C>G
XM_011534092.1:c.2356C>G	XP_011532394.1:p.Leu786Val
NM_001354726.1:c.1777C>G	NP_001341655.1:p.Leu593Val
NM_001354727.1:c.2350C>G	NP_001341656.1:p.Leu784Val
NM_001354729.1:c.2338C>G	NP_001341658.1:p.Leu780Val
NM_001354730.1:c.2110C>G	NP_001341659.1:p.Leu704Val
NR_148950.1:n.2299C>G
NR_148951.1:n.2175C>G
XR_001740256.2:n.2389C>G
XR_002959580.1:n.2389C>G
XR_002959581.1:n.4006C>G
NM_001354727.2:c.2350C>G	NP_001341656.1:p.Leu784Val
NM_004628.5:c.2356C>G MANE Select	NP_004619.3:p.Leu786Val
NR_148950.2:n.2228C>G
NR_148951.2:n.2104C>G
NM_001354726.2:c.1777C>G	NP_001341655.1:p.Leu593Val
NM_001354729.2:c.2338C>G	NP_001341658.1:p.Leu780Val
NM_001354730.2:c.2110C>G	NP_001341659.1:p.Leu704Val