Canonical Allele Identifier: CA2677932172
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI

Linked Data

dbSNP Id: rs2150980106
gnomAD v4: 6-31139168-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139168G>A , CM000668.2:g.31139168G>A GRCh38
NC_000006.11:g.31106945G>A , CM000668.1:g.31106945G>A GRCh37
NC_000006.10:g.31214924G>A NCBI36
NG_021348.1:g.29338G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.167+389G>A (PSORS1C1) MANE Select ENSP00000259881.9:n.167+389G>A
ENST00000259845.4:c.-142C>T (PSORS1C2) ENSP00000259845.4:n.-142C>T
ENST00000259881.9:c.167+389G>A (PSORS1C1) ENSP00000259881.9:n.167+389G>A
ENST00000479581.5:n.62-473G>A (PSORS1C1)
ENST00000481450.2:c.-22-473G>A (PSORS1C1) ENSP00000447158.1:n.-22-473G>A
ENST00000547221.1:c.23+389G>A (PSORS1C1) ENSP00000449471.1:n.23+389G>A
ENST00000552747.1:n.863G>A (PSORS1C1)
NM_014068.2:c.167+389G>A (PSORS1C1) NP_054787.2:n.167+389G>A
NM_014069.2:c.-142C>T (PSORS1C2) NP_054788.2:n.-142C>T
NM_014068.3:c.167+389G>A (PSORS1C1) MANE Select NP_054787.2:n.167+389G>A
Search 100 bp 5'
Search 100 bp 3'