Canonical Allele Identifier: CA351538040

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190328C>A (hg19) ; chr3:g.14148828C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148828C>A , CM000665.2:g.14148828C>A	GRCh38
NC_000003.11:g.14190328C>A , CM000665.1:g.14190328C>A	GRCh37
NC_000003.10:g.14165329C>A	NCBI36
NG_011763.1:g.34845G>T , LRG_472:g.34845G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2236G>T MANE Select	ENSP00000285021.8:p.Ala746Ser
ENST00000285021.11:c.2236G>T	ENSP00000285021.7:p.Ala746Ser
ENST00000427795.2:n.101G>T
ENST00000476581.6:c.*1689G>T	ENSP00000424548.1:n.*1689G>T
NM_004628.4:c.2236G>T , LRG_472t1:c.2236G>T	NP_004619.3:p.Ala746Ser
NR_027299.1:n.2216G>T
XM_011534092.1:c.2236G>T	XP_011532394.1:p.Ala746Ser
NM_001354726.1:c.1657G>T	NP_001341655.1:p.Ala553Ser
NM_001354727.1:c.2230G>T	NP_001341656.1:p.Ala744Ser
NM_001354729.1:c.2218G>T	NP_001341658.1:p.Ala740Ser
NM_001354730.1:c.1990G>T	NP_001341659.1:p.Ala664Ser
NR_148950.1:n.2179G>T
NR_148951.1:n.2055G>T
XR_001740256.2:n.2269G>T
XR_002959580.1:n.2269G>T
XR_002959581.1:n.3886G>T
NM_001354727.2:c.2230G>T	NP_001341656.1:p.Ala744Ser
NM_004628.5:c.2236G>T MANE Select	NP_004619.3:p.Ala746Ser
NR_148950.2:n.2108G>T
NR_148951.2:n.1984G>T
NM_001354726.2:c.1657G>T	NP_001341655.1:p.Ala553Ser
NM_001354729.2:c.2218G>T	NP_001341658.1:p.Ala740Ser
NM_001354730.2:c.1990G>T	NP_001341659.1:p.Ala664Ser