Canonical Allele Identifier: CA2267515

Gene: XPC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14158860C>T , CM000665.2:g.14158860C>T	GRCh38
NC_000003.11:g.14200360C>T , CM000665.1:g.14200360C>T	GRCh37
NC_000003.10:g.14175364C>T	NCBI36
NG_011763.1:g.24813G>A , LRG_472:g.24813G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004628.5:c.1023G>A MANE Select	NP_004619.3:p.Ala341=
ENST00000285021.12:c.1023G>A MANE Select	ENSP00000285021.8:p.Ala341=
NM_001354726.1:c.444G>A	NP_001341655.1:p.Ala148=
NM_001354726.2:c.444G>A	NP_001341655.1:p.Ala148=
NM_001354727.1:c.1023G>A	NP_001341656.1:p.Ala341=
NM_001354727.2:c.1023G>A	NP_001341656.1:p.Ala341=
NM_001354729.1:c.1005G>A	NP_001341658.1:p.Ala335=
NM_001354729.2:c.1005G>A	NP_001341658.1:p.Ala335=
NM_001354730.1:c.1023G>A	NP_001341659.1:p.Ala341=
NM_001354730.2:c.1023G>A	NP_001341659.1:p.Ala341=
NM_004628.4:c.1023G>A , LRG_472t1:c.1023G>A	NP_004619.3:p.Ala341=
NR_027299.1:n.1003G>A
NR_148950.1:n.1127G>A
NR_148950.2:n.1056G>A
NR_148951.1:n.1003G>A
NR_148951.2:n.932G>A
ENST00000285021.11:c.1023G>A	ENSP00000285021.7:p.Ala341=
ENST00000476581.6:c.*476G>A	ENSP00000424548.1:n.*476G>A
ENST00000477324.6:n.501G>A
XM_011534092.1:c.1023G>A	XP_011532394.1:p.Ala341=
XM_011534093.1:c.1023G>A	XP_011532395.1:p.Ala341=
XR_001740256.2:n.1056G>A
XR_002959580.1:n.1056G>A
XR_002959581.1:n.1056G>A