Canonical Allele Identifier: CA2664573359

Gene: XPC

Linked Data

• gnomAD v4: 3-14148418-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148418C>A , CM000665.2:g.14148418C>A	GRCh38
NC_000003.11:g.14189918C>A , CM000665.1:g.14189918C>A	GRCh37
NC_000003.10:g.14164919C>A	NCBI36
NG_011763.1:g.35255G>T , LRG_472:g.35255G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420+144G>T MANE Select	ENSP00000285021.8:n.2420+144G>T
ENST00000285021.11:c.2420+144G>T	ENSP00000285021.7:n.2420+144G>T
ENST00000427795.2:n.285+144G>T
ENST00000476581.6:c.*1873+144G>T	ENSP00000424548.1:n.*1873+144G>T
NM_004628.4:c.2420+144G>T , LRG_472t1:c.2420+144G>T	NP_004619.3:n.2420+144G>T
NR_027299.1:n.2400+144G>T
XM_011534092.1:c.2420+144G>T	XP_011532394.1:n.2420+144G>T
NM_001354726.1:c.1841+144G>T	NP_001341655.1:n.1841+144G>T
NM_001354727.1:c.2414+144G>T	NP_001341656.1:n.2414+144G>T
NM_001354729.1:c.2402+144G>T	NP_001341658.1:n.2402+144G>T
NM_001354730.1:c.2174+144G>T	NP_001341659.1:n.2174+144G>T
NR_148950.1:n.2363+144G>T
NR_148951.1:n.2239+144G>T
XR_001740256.2:n.2453+144G>T
XR_002959580.1:n.2453+144G>T
XR_002959581.1:n.4070+144G>T
NM_001354727.2:c.2414+144G>T	NP_001341656.1:n.2414+144G>T
NM_004628.5:c.2420+144G>T MANE Select	NP_004619.3:n.2420+144G>T
NR_148950.2:n.2292+144G>T
NR_148951.2:n.2168+144G>T
NM_001354726.2:c.1841+144G>T	NP_001341655.1:n.1841+144G>T
NM_001354729.2:c.2402+144G>T	NP_001341658.1:n.2402+144G>T
NM_001354730.2:c.2174+144G>T	NP_001341659.1:n.2174+144G>T