Canonical Allele Identifier: CA2664573543

Gene: XPC

Linked Data

• gnomAD v4: 3-14148800-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148800G>A , CM000665.2:g.14148800G>A	GRCh38
NC_000003.11:g.14190300G>A , CM000665.1:g.14190300G>A	GRCh37
NC_000003.10:g.14165301G>A	NCBI36
NG_011763.1:g.34873C>T , LRG_472:g.34873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2250+14C>T MANE Select	ENSP00000285021.8:n.2250+14C>T
ENST00000285021.11:c.2250+14C>T	ENSP00000285021.7:n.2250+14C>T
ENST00000427795.2:n.115+14C>T
ENST00000476581.6:c.*1703+14C>T	ENSP00000424548.1:n.*1703+14C>T
NM_004628.4:c.2250+14C>T , LRG_472t1:c.2250+14C>T	NP_004619.3:n.2250+14C>T
NR_027299.1:n.2230+14C>T
XM_011534092.1:c.2250+14C>T	XP_011532394.1:n.2250+14C>T
NM_001354726.1:c.1671+14C>T	NP_001341655.1:n.1671+14C>T
NM_001354727.1:c.2244+14C>T	NP_001341656.1:n.2244+14C>T
NM_001354729.1:c.2232+14C>T	NP_001341658.1:n.2232+14C>T
NM_001354730.1:c.2004+14C>T	NP_001341659.1:n.2004+14C>T
NR_148950.1:n.2193+14C>T
NR_148951.1:n.2069+14C>T
XR_001740256.2:n.2283+14C>T
XR_002959580.1:n.2283+14C>T
XR_002959581.1:n.3900+14C>T
NM_001354727.2:c.2244+14C>T	NP_001341656.1:n.2244+14C>T
NM_004628.5:c.2250+14C>T MANE Select	NP_004619.3:n.2250+14C>T
NR_148950.2:n.2122+14C>T
NR_148951.2:n.1998+14C>T
NM_001354726.2:c.1671+14C>T	NP_001341655.1:n.1671+14C>T
NM_001354729.2:c.2232+14C>T	NP_001341658.1:n.2232+14C>T
NM_001354730.2:c.2004+14C>T	NP_001341659.1:n.2004+14C>T