Canonical Allele Identifier: CA2664573418

Gene: XPC

Linked Data

• gnomAD v4: 3-14148525-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148525C>T , CM000665.2:g.14148525C>T	GRCh38
NC_000003.11:g.14190025C>T , CM000665.1:g.14190025C>T	GRCh37
NC_000003.10:g.14165026C>T	NCBI36
NG_011763.1:g.35148G>A , LRG_472:g.35148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420+37G>A MANE Select	ENSP00000285021.8:n.2420+37G>A
ENST00000285021.11:c.2420+37G>A	ENSP00000285021.7:n.2420+37G>A
ENST00000427795.2:n.285+37G>A
ENST00000476581.6:c.*1873+37G>A	ENSP00000424548.1:n.*1873+37G>A
NM_004628.4:c.2420+37G>A , LRG_472t1:c.2420+37G>A	NP_004619.3:n.2420+37G>A
NR_027299.1:n.2400+37G>A
XM_011534092.1:c.2420+37G>A	XP_011532394.1:n.2420+37G>A
NM_001354726.1:c.1841+37G>A	NP_001341655.1:n.1841+37G>A
NM_001354727.1:c.2414+37G>A	NP_001341656.1:n.2414+37G>A
NM_001354729.1:c.2402+37G>A	NP_001341658.1:n.2402+37G>A
NM_001354730.1:c.2174+37G>A	NP_001341659.1:n.2174+37G>A
NR_148950.1:n.2363+37G>A
NR_148951.1:n.2239+37G>A
XR_001740256.2:n.2453+37G>A
XR_002959580.1:n.2453+37G>A
XR_002959581.1:n.4070+37G>A
NM_001354727.2:c.2414+37G>A	NP_001341656.1:n.2414+37G>A
NM_004628.5:c.2420+37G>A MANE Select	NP_004619.3:n.2420+37G>A
NR_148950.2:n.2292+37G>A
NR_148951.2:n.2168+37G>A
NM_001354726.2:c.1841+37G>A	NP_001341655.1:n.1841+37G>A
NM_001354729.2:c.2402+37G>A	NP_001341658.1:n.2402+37G>A
NM_001354730.2:c.2174+37G>A	NP_001341659.1:n.2174+37G>A