Canonical Allele Identifier: CA351537766

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190118G>C (hg19) ; chr3:g.14148618G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148618G>C , CM000665.2:g.14148618G>C	GRCh38
NC_000003.11:g.14190118G>C , CM000665.1:g.14190118G>C	GRCh37
NC_000003.10:g.14165119G>C	NCBI36
NG_011763.1:g.35055C>G , LRG_472:g.35055C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2364C>G MANE Select	ENSP00000285021.8:p.Ile788Met
ENST00000285021.11:c.2364C>G	ENSP00000285021.7:p.Ile788Met
ENST00000427795.2:n.229C>G
ENST00000476581.6:c.*1817C>G	ENSP00000424548.1:n.*1817C>G
NM_004628.4:c.2364C>G , LRG_472t1:c.2364C>G	NP_004619.3:p.Ile788Met
NR_027299.1:n.2344C>G
XM_011534092.1:c.2364C>G	XP_011532394.1:p.Ile788Met
NM_001354726.1:c.1785C>G	NP_001341655.1:p.Ile595Met
NM_001354727.1:c.2358C>G	NP_001341656.1:p.Ile786Met
NM_001354729.1:c.2346C>G	NP_001341658.1:p.Ile782Met
NM_001354730.1:c.2118C>G	NP_001341659.1:p.Ile706Met
NR_148950.1:n.2307C>G
NR_148951.1:n.2183C>G
XR_001740256.2:n.2397C>G
XR_002959580.1:n.2397C>G
XR_002959581.1:n.4014C>G
NM_001354727.2:c.2358C>G	NP_001341656.1:p.Ile786Met
NM_004628.5:c.2364C>G MANE Select	NP_004619.3:p.Ile788Met
NR_148950.2:n.2236C>G
NR_148951.2:n.2112C>G
NM_001354726.2:c.1785C>G	NP_001341655.1:p.Ile595Met
NM_001354729.2:c.2346C>G	NP_001341658.1:p.Ile782Met
NM_001354730.2:c.2118C>G	NP_001341659.1:p.Ile706Met