Canonical Allele Identifier: CA2267121

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14147926A>G , CM000665.2:g.14147926A>G	GRCh38
NC_000003.11:g.14189426A>G , CM000665.1:g.14189426A>G	GRCh37
NC_000003.10:g.14164427A>G	NCBI36
NG_011763.1:g.35747T>C , LRG_472:g.35747T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.2496T>C MANE Select	NP_004619.3:p.Ile832=
ENST00000285021.12:c.2496T>C MANE Select	ENSP00000285021.8:p.Ile832=
NM_001354726.1:c.1917T>C	NP_001341655.1:p.Ile639=
NM_001354726.2:c.1917T>C	NP_001341655.1:p.Ile639=
NM_001354727.1:c.2490T>C	NP_001341656.1:p.Ile830=
NM_001354727.2:c.2490T>C	NP_001341656.1:p.Ile830=
NM_001354729.1:c.2478T>C	NP_001341658.1:p.Ile826=
NM_001354729.2:c.2478T>C	NP_001341658.1:p.Ile826=
NM_001354730.1:c.2250T>C	NP_001341659.1:p.Ile750=
NM_001354730.2:c.2250T>C	NP_001341659.1:p.Ile750=
NM_004628.4:c.2496T>C , LRG_472t1:c.2496T>C	NP_004619.3:p.Ile832=
NR_027299.1:n.2476T>C
NR_148950.1:n.2439T>C
NR_148950.2:n.2368T>C
NR_148951.1:n.2315T>C
NR_148951.2:n.2244T>C
ENST00000285021.11:c.2496T>C	ENSP00000285021.7:p.Ile832=
ENST00000427795.2:n.361T>C
ENST00000476581.6:c.*1949T>C	ENSP00000424548.1:n.*1949T>C
ENST00000601399.3:n.690-25A>G
ENST00000608606.1:c.599-25A>G
ENST00000626721.1:n.589-29A>G
XM_011534092.1:c.2496T>C	XP_011532394.1:p.Ile832=
XR_001740256.2:n.2529T>C
XR_002959580.1:n.2529T>C
XR_002959581.1:n.4146T>C