Canonical Allele Identifier: CA2664573435

Gene: XPC

Linked Data

• gnomAD v4: 3-14145687-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14145687A>G , CM000665.2:g.14145687A>G	GRCh38
NC_000003.11:g.14187187A>G , CM000665.1:g.14187187A>G	GRCh37
NC_000003.10:g.14162188A>G	NCBI36
NG_011763.1:g.37986T>C , LRG_472:g.37986T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.*254T>C MANE Select	ENSP00000285021.8:n.*254T>C
ENST00000285021.11:c.*254T>C	ENSP00000285021.7:n.*254T>C
ENST00000601399.3:n.689+4A>G
ENST00000608606.1:c.598+4A>G
ENST00000626721.1:n.588+4A>G
NM_004628.4:c.*254T>C , LRG_472t1:c.*254T>C	NP_004619.3:n.*254T>C
NR_027299.1:n.3057T>C
NM_001354726.1:c.*254T>C	NP_001341655.1:n.*254T>C
NM_001354727.1:c.*254T>C	NP_001341656.1:n.*254T>C
NM_001354729.1:c.*254T>C	NP_001341658.1:n.*254T>C
NM_001354730.1:c.*254T>C	NP_001341659.1:n.*254T>C
NR_148950.1:n.3020T>C
NR_148951.1:n.2896T>C
XR_001740256.2:n.3384T>C
XR_002959580.1:n.3459T>C
XR_002959581.1:n.4727T>C
NM_001354727.2:c.*254T>C	NP_001341656.1:n.*254T>C
NM_004628.5:c.*254T>C MANE Select	NP_004619.3:n.*254T>C
NR_148950.2:n.2949T>C
NR_148951.2:n.2825T>C
NM_001354726.2:c.*254T>C	NP_001341655.1:n.*254T>C
NM_001354729.2:c.*254T>C	NP_001341658.1:n.*254T>C
NM_001354730.2:c.*254T>C	NP_001341659.1:n.*254T>C