Canonical Allele Identifier: CA3708774
Gene: PSORS1C2 HGNC NCBI
PSORS1C1 HGNC NCBI
COSMIC:
COSM4160646 (not active)
MyVariant.info:
GRCh38 chr6:g.31138722G>A
GRCh37 chr6:g.31106499G>A
Revel Score:
ENST00000259881 (MANE Select) 0.050
gnomAD v2:
6:31106499 G / A
gnomAD v3:
6:31138722 G / A
gnomAD v4:
chr6-31138722-G-A
Joint Max Group AF 0.16699893 (AFR)
Genomes Max Group AF 0.1670278 (AFR)
Exomes Max Group AF 0.16471644 (AFR)
ClinVar RCV:
RCV003979698
ClinVar Variation:
3059106
dbSNP:
9263726
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31138722G>A , CM000668.2:g.31138722G>A GRCh38
NC_000006.11:g.31106499G>A , CM000668.1:g.31106499G>A GRCh37
NC_000006.10:g.31214478G>A NCBI36
NG_021348.1:g.28892G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259845.5:c.55+250C>T (PSORS1C2) MANE Select ENSP00000259845.4:n.55+250C>T
ENST00000259881.10:c.110G>A (PSORS1C1) MANE Select ENSP00000259881.9:p.Arg37His
ENST00000259845.4:c.55+250C>T (PSORS1C2) ENSP00000259845.4:n.55+250C>T
ENST00000259881.9:c.110G>A (PSORS1C1) ENSP00000259881.9:p.Arg37His
ENST00000479581.5:n.62-919G>A (PSORS1C1)
ENST00000481450.2:c.-23+263G>A (PSORS1C1) ENSP00000447158.1:n.-23+263G>A
ENST00000547221.1:c.-35G>A (PSORS1C1) ENSP00000449471.1:n.-35G>A
ENST00000550838.1:n.523G>A (PSORS1C1)
ENST00000552747.1:n.417G>A (PSORS1C1)
NM_014068.2:c.110G>A (PSORS1C1) NP_054787.2:p.Arg37His
NM_014069.2:c.55+250C>T (PSORS1C2) NP_054788.2:n.55+250C>T
NM_014069.3:c.55+250C>T (PSORS1C2) MANE Select NP_054788.2:n.55+250C>T
NM_014068.3:c.110G>A (PSORS1C1) MANE Select NP_054787.2:p.Arg37His
Search 100 bp 5'
Search 100 bp 3'