Canonical Allele Identifier: CA2267831
Gene: XPC HGNC NCBI
LSM3 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.14178523G>T
GRCh37 chr3:g.14220023G>T
Revel Score:
ENST00000285021 (MANE Select) 0.069
ENST00000449060 0.069
ENST00000511155 0.069
gnomAD v2:
3:14220023 G / T
gnomAD v3:
3:14178523 G / T
gnomAD v4:
chr3-14178523-G-T
Joint Max Group AF 0.00000359 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
dbSNP:
1870134
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14178523G>T , CM000665.2:g.14178523G>T GRCh38
NC_000003.11:g.14220023G>T , CM000665.1:g.14220023G>T GRCh37
NC_000003.10:g.14195027G>T NCBI36
NG_011763.1:g.5150C>A , LRG_472:g.5150C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000285021.12:c.46C>A (XPC) MANE Select ENSP00000285021.8:p.Leu16Met
ENST00000285021.11:c.46C>A (XPC) ENSP00000285021.7:p.Leu16Met
ENST00000306024.3:c.-338G>T (LSM3) ENSP00000302160.3:n.-338G>T
ENST00000476581.6:c.46C>A (XPC) ENSP00000424548.1:p.Leu16Met
ENST00000511155.1:c.46C>A (XPC) ENSP00000423867.1:p.Leu16Met
NM_004628.4:c.46C>A , LRG_472t1:c.46C>A (XPC) NP_004619.3:p.Leu16Met
NR_027299.1:n.150C>A (XPC)
XM_011534092.1:c.46C>A (XPC) XP_011532394.1:p.Leu16Met
XM_011534093.1:c.46C>A (XPC) XP_011532395.1:p.Leu16Met
NM_001354726.1:c.-410C>A (XPC) NP_001341655.1:n.-410C>A
NM_001354727.1:c.46C>A (XPC) NP_001341656.1:p.Leu16Met
NM_001354729.1:c.46C>A (XPC) NP_001341658.1:p.Leu16Met
NM_001354730.1:c.46C>A (XPC) NP_001341659.1:p.Leu16Met
NR_148950.1:n.150C>A (XPC)
NR_148951.1:n.150C>A (XPC)
XR_001740256.2:n.79C>A (XPC)
XR_002959580.1:n.79C>A (XPC)
XR_002959581.1:n.79C>A (XPC)
NM_001354727.2:c.46C>A (XPC) NP_001341656.1:p.Leu16Met
NM_004628.5:c.46C>A (XPC) MANE Select NP_004619.3:p.Leu16Met
NR_148950.2:n.79C>A (XPC)
NR_148951.2:n.79C>A (XPC)
NM_001354726.2:c.-410C>A (XPC) NP_001341655.1:n.-410C>A
NM_001354729.2:c.46C>A (XPC) NP_001341658.1:p.Leu16Met
NM_001354730.2:c.46C>A (XPC) NP_001341659.1:p.Leu16Met
Search 100 bp 5'
Search 100 bp 3'