Canonical Allele Identifier: CA2664573632

Gene: XPC

Linked Data

• gnomAD v4: 3-14145861-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14145861G>T , CM000665.2:g.14145861G>T	GRCh38
NC_000003.11:g.14187361G>T , CM000665.1:g.14187361G>T	GRCh37
NC_000003.10:g.14162362G>T	NCBI36
NG_011763.1:g.37812C>A , LRG_472:g.37812C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000285021.12:c.*80C>A MANE Select	ENSP00000285021.8:n.*80C>A
ENST00000285021.11:c.*80C>A	ENSP00000285021.7:n.*80C>A
ENST00000476581.6:c.*2356C>A	ENSP00000424548.1:n.*2356C>A
ENST00000601399.3:n.689+178G>T
ENST00000608606.1:c.598+178G>T
ENST00000626721.1:n.588+178G>T
NM_004628.4:c.*80C>A , LRG_472t1:c.*80C>A	NP_004619.3:n.*80C>A
NR_027299.1:n.2883C>A
NM_001354726.1:c.*80C>A	NP_001341655.1:n.*80C>A
NM_001354727.1:c.*80C>A	NP_001341656.1:n.*80C>A
NM_001354729.1:c.*80C>A	NP_001341658.1:n.*80C>A
NM_001354730.1:c.*80C>A	NP_001341659.1:n.*80C>A
NR_148950.1:n.2846C>A
NR_148951.1:n.2722C>A
XR_001740256.2:n.3210C>A
XR_002959580.1:n.3285C>A
XR_002959581.1:n.4553C>A
NM_001354727.2:c.*80C>A	NP_001341656.1:n.*80C>A
NM_004628.5:c.*80C>A MANE Select	NP_004619.3:n.*80C>A
NR_148950.2:n.2775C>A
NR_148951.2:n.2651C>A
NM_001354726.2:c.*80C>A	NP_001341655.1:n.*80C>A
NM_001354729.2:c.*80C>A	NP_001341658.1:n.*80C>A
NM_001354730.2:c.*80C>A	NP_001341659.1:n.*80C>A