Canonical Allele Identifier: CA1346950376

Gene: XPC

Linked Data

• dbSNP Id: rs1695537330
• gnomAD v4: 3-14148449-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148449T>G , CM000665.2:g.14148449T>G	GRCh38
NC_000003.11:g.14189949T>G , CM000665.1:g.14189949T>G	GRCh37
NC_000003.10:g.14164950T>G	NCBI36
NG_011763.1:g.35224A>C , LRG_472:g.35224A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2420+113A>C MANE Select	ENSP00000285021.8:n.2420+113A>C
ENST00000285021.11:c.2420+113A>C	ENSP00000285021.7:n.2420+113A>C
ENST00000427795.2:n.285+113A>C
ENST00000476581.6:c.*1873+113A>C	ENSP00000424548.1:n.*1873+113A>C
NM_004628.4:c.2420+113A>C , LRG_472t1:c.2420+113A>C	NP_004619.3:n.2420+113A>C
NR_027299.1:n.2400+113A>C
XM_011534092.1:c.2420+113A>C	XP_011532394.1:n.2420+113A>C
NM_001354726.1:c.1841+113A>C	NP_001341655.1:n.1841+113A>C
NM_001354727.1:c.2414+113A>C	NP_001341656.1:n.2414+113A>C
NM_001354729.1:c.2402+113A>C	NP_001341658.1:n.2402+113A>C
NM_001354730.1:c.2174+113A>C	NP_001341659.1:n.2174+113A>C
NR_148950.1:n.2363+113A>C
NR_148951.1:n.2239+113A>C
XR_001740256.2:n.2453+113A>C
XR_002959580.1:n.2453+113A>C
XR_002959581.1:n.4070+113A>C
NM_001354727.2:c.2414+113A>C	NP_001341656.1:n.2414+113A>C
NM_004628.5:c.2420+113A>C MANE Select	NP_004619.3:n.2420+113A>C
NR_148950.2:n.2292+113A>C
NR_148951.2:n.2168+113A>C
NM_001354726.2:c.1841+113A>C	NP_001341655.1:n.1841+113A>C
NM_001354729.2:c.2402+113A>C	NP_001341658.1:n.2402+113A>C
NM_001354730.2:c.2174+113A>C	NP_001341659.1:n.2174+113A>C