Canonical Allele Identifier: CA363323520
Gene: PSORS1C2 HGNC NCBI
PSORS1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139012C>A , CM000668.2:g.31139012C>A GRCh38
NC_000006.11:g.31106789C>A , CM000668.1:g.31106789C>A GRCh37
NC_000006.10:g.31214768C>A NCBI36
NG_021348.1:g.29182C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259845.5:c.15G>T (PSORS1C2) MANE Select ENSP00000259845.4:p.Trp5Cys
ENST00000259881.10:c.167+233C>A (PSORS1C1) MANE Select ENSP00000259881.9:n.167+233C>A
ENST00000259845.4:c.15G>T (PSORS1C2) ENSP00000259845.4:p.Trp5Cys
ENST00000259881.9:c.167+233C>A (PSORS1C1) ENSP00000259881.9:n.167+233C>A
ENST00000479581.5:n.62-629C>A (PSORS1C1)
ENST00000481450.2:c.-23+553C>A (PSORS1C1) ENSP00000447158.1:n.-23+553C>A
ENST00000547221.1:c.23+233C>A (PSORS1C1) ENSP00000449471.1:n.23+233C>A
ENST00000552747.1:n.707C>A (PSORS1C1)
NM_014068.2:c.167+233C>A (PSORS1C1) NP_054787.2:n.167+233C>A
NM_014069.2:c.15G>T (PSORS1C2) NP_054788.2:p.Trp5Cys
NM_014069.3:c.15G>T (PSORS1C2) MANE Select NP_054788.2:p.Trp5Cys
NM_014068.3:c.167+233C>A (PSORS1C1) MANE Select NP_054787.2:n.167+233C>A