Canonical Allele Identifier: CA1619021480
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI

Linked Data

dbSNP Id: rs1561777866

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139157T>A , CM000668.2:g.31139157T>A GRCh38
NC_000006.11:g.31106934T>A , CM000668.1:g.31106934T>A GRCh37
NC_000006.10:g.31214913T>A NCBI36
NG_021348.1:g.29327T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.167+378T>A (PSORS1C1) MANE Select ENSP00000259881.9:n.167+378T>A
ENST00000259845.4:c.-131A>T (PSORS1C2) ENSP00000259845.4:n.-131A>T
ENST00000259881.9:c.167+378T>A (PSORS1C1) ENSP00000259881.9:n.167+378T>A
ENST00000479581.5:n.62-484T>A (PSORS1C1)
ENST00000481450.2:c.-22-484T>A (PSORS1C1) ENSP00000447158.1:n.-22-484T>A
ENST00000547221.1:c.23+378T>A (PSORS1C1) ENSP00000449471.1:n.23+378T>A
ENST00000552747.1:n.852T>A (PSORS1C1)
NM_014068.2:c.167+378T>A (PSORS1C1) NP_054787.2:n.167+378T>A
NM_014069.2:c.-131A>T (PSORS1C2) NP_054788.2:n.-131A>T
NM_014068.3:c.167+378T>A (PSORS1C1) MANE Select NP_054787.2:n.167+378T>A