Canonical Allele Identifier: CA3708748
Gene: PSORS1C2 HGNC NCBI
PSORS1C1 HGNC NCBI
COSMIC:
COSN8871530 (not active)
MyVariant.info:
GRCh38 chr6:g.31138491A>G
GRCh37 chr6:g.31106268A>G
gnomAD v2:
6:31106268 A / G
gnomAD v3:
6:31138491 A / G
gnomAD v4:
chr6-31138491-A-G
Joint Max Group AF 0.44817682 (AFR)
Genomes Max Group AF 0.44432151 (AFR)
Exomes Max Group AF 0.44922577 (AFR)
dbSNP:
3130573
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31138491A>G , CM000668.2:g.31138491A>G GRCh38
NC_000006.11:g.31106268A>G , CM000668.1:g.31106268A>G GRCh37
NC_000006.10:g.31214247A>G NCBI36
NG_021348.1:g.28661A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259845.5:c.56-185T>C (PSORS1C2) MANE Select ENSP00000259845.4:n.56-185T>C
ENST00000259881.10:c.43+32A>G (PSORS1C1) MANE Select ENSP00000259881.9:n.43+32A>G
ENST00000259845.4:c.56-185T>C (PSORS1C2) ENSP00000259845.4:n.56-185T>C
ENST00000259881.9:c.43+32A>G (PSORS1C1) ENSP00000259881.9:n.43+32A>G
ENST00000479581.5:n.62-1150A>G (PSORS1C1)
ENST00000481450.2:c.-23+32A>G (PSORS1C1) ENSP00000447158.1:n.-23+32A>G
ENST00000547221.1:c.-102+32A>G (PSORS1C1) ENSP00000449471.1:n.-102+32A>G
ENST00000550838.1:n.292A>G (PSORS1C1)
ENST00000552747.1:n.186A>G (PSORS1C1)
NM_014068.2:c.43+32A>G (PSORS1C1) NP_054787.2:n.43+32A>G
NM_014069.2:c.56-185T>C (PSORS1C2) NP_054788.2:n.56-185T>C
NM_014069.3:c.56-185T>C (PSORS1C2) MANE Select NP_054788.2:n.56-185T>C
NM_014068.3:c.43+32A>G (PSORS1C1) MANE Select NP_054787.2:n.43+32A>G
Search 100 bp 5'
Search 100 bp 3'