Canonical Allele Identifier: CA1619021467
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139128G= , CM000668.2:g.31139128G= GRCh38
NC_000006.11:g.31106905G= , CM000668.1:g.31106905G= GRCh37
NC_000006.10:g.31214884G= NCBI36
NG_021348.1:g.29298G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.167+349G= (PSORS1C1) MANE Select ENSP00000259881.9:n.167+349G=
ENST00000259845.4:c.-102C= (PSORS1C2) ENSP00000259845.4:n.-102C=
ENST00000259881.9:c.167+349G= (PSORS1C1) ENSP00000259881.9:n.167+349G=
ENST00000479581.5:n.62-513G= (PSORS1C1)
ENST00000481450.2:c.-22-513G= (PSORS1C1) ENSP00000447158.1:n.-22-513G=
ENST00000547221.1:c.23+349G= (PSORS1C1) ENSP00000449471.1:n.23+349G=
ENST00000552747.1:n.823G= (PSORS1C1)
NM_014068.2:c.167+349G= (PSORS1C1) NP_054787.2:n.167+349G=
NM_014069.2:c.-102C= (PSORS1C2) NP_054788.2:n.-102C=
NM_014068.3:c.167+349G= (PSORS1C1) MANE Select NP_054787.2:n.167+349G=