Canonical Allele Identifier: CA2664573622

Gene: XPC

Linked Data

• gnomAD v4: 3-14145852-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14145852C>A , CM000665.2:g.14145852C>A	GRCh38
NC_000003.11:g.14187352C>A , CM000665.1:g.14187352C>A	GRCh37
NC_000003.10:g.14162353C>A	NCBI36
NG_011763.1:g.37821G>T , LRG_472:g.37821G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.*89G>T MANE Select	ENSP00000285021.8:n.*89G>T
ENST00000285021.11:c.*89G>T	ENSP00000285021.7:n.*89G>T
ENST00000476581.6:c.*2365G>T	ENSP00000424548.1:n.*2365G>T
ENST00000601399.3:n.689+169C>A
ENST00000608606.1:c.598+169C>A
ENST00000626721.1:n.588+169C>A
NM_004628.4:c.*89G>T , LRG_472t1:c.*89G>T	NP_004619.3:n.*89G>T
NR_027299.1:n.2892G>T
NM_001354726.1:c.*89G>T	NP_001341655.1:n.*89G>T
NM_001354727.1:c.*89G>T	NP_001341656.1:n.*89G>T
NM_001354729.1:c.*89G>T	NP_001341658.1:n.*89G>T
NM_001354730.1:c.*89G>T	NP_001341659.1:n.*89G>T
NR_148950.1:n.2855G>T
NR_148951.1:n.2731G>T
XR_001740256.2:n.3219G>T
XR_002959580.1:n.3294G>T
XR_002959581.1:n.4562G>T
NM_001354727.2:c.*89G>T	NP_001341656.1:n.*89G>T
NM_004628.5:c.*89G>T MANE Select	NP_004619.3:n.*89G>T
NR_148950.2:n.2784G>T
NR_148951.2:n.2660G>T
NM_001354726.2:c.*89G>T	NP_001341655.1:n.*89G>T
NM_001354729.2:c.*89G>T	NP_001341658.1:n.*89G>T
NM_001354730.2:c.*89G>T	NP_001341659.1:n.*89G>T