Canonical Allele Identifier: CA432813653

Gene: XPC

Linked Data

• MyVariant Identifiers: chr3:g.14190169A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148669A>G , CM000665.2:g.14148669A>G	GRCh38
NC_000003.11:g.14190169A>G , CM000665.1:g.14190169A>G	GRCh37
NC_000003.10:g.14165170A>G	NCBI36
NG_011763.1:g.35004T>C , LRG_472:g.35004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2313T>C MANE Select	ENSP00000285021.8:p.Cys771=
ENST00000285021.11:c.2313T>C	ENSP00000285021.7:p.Cys771=
ENST00000427795.2:n.178T>C
ENST00000476581.6:c.*1766T>C	ENSP00000424548.1:n.*1766T>C
NM_004628.4:c.2313T>C , LRG_472t1:c.2313T>C	NP_004619.3:p.Cys771=
NR_027299.1:n.2293T>C
XM_011534092.1:c.2313T>C	XP_011532394.1:p.Cys771=
NM_001354726.1:c.1734T>C	NP_001341655.1:p.Cys578=
NM_001354727.1:c.2307T>C	NP_001341656.1:p.Cys769=
NM_001354729.1:c.2295T>C	NP_001341658.1:p.Cys765=
NM_001354730.1:c.2067T>C	NP_001341659.1:p.Cys689=
NR_148950.1:n.2256T>C
NR_148951.1:n.2132T>C
XR_001740256.2:n.2346T>C
XR_002959580.1:n.2346T>C
XR_002959581.1:n.3963T>C
NM_001354727.2:c.2307T>C	NP_001341656.1:p.Cys769=
NM_004628.5:c.2313T>C MANE Select	NP_004619.3:p.Cys771=
NR_148950.2:n.2185T>C
NR_148951.2:n.2061T>C
NM_001354726.2:c.1734T>C	NP_001341655.1:p.Cys578=
NM_001354729.2:c.2295T>C	NP_001341658.1:p.Cys765=
NM_001354730.2:c.2067T>C	NP_001341659.1:p.Cys689=