Canonical Allele Identifier: CA1619021434
Gene: PSORS1C2 HGNC NCBI
PSORS1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139029C= , CM000668.2:g.31139029C= GRCh38
NC_000006.11:g.31106806C= , CM000668.1:g.31106806C= GRCh37
NC_000006.10:g.31214785C= NCBI36
NG_021348.1:g.29199C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000259845.5:c.-3G= (PSORS1C2) MANE Select ENSP00000259845.4:n.-3G=
ENST00000259881.10:c.167+250C= (PSORS1C1) MANE Select ENSP00000259881.9:n.167+250C=
ENST00000259845.4:c.-3G= (PSORS1C2) ENSP00000259845.4:n.-3G=
ENST00000259881.9:c.167+250C= (PSORS1C1) ENSP00000259881.9:n.167+250C=
ENST00000479581.5:n.62-612C= (PSORS1C1)
ENST00000481450.2:c.-23+570C= (PSORS1C1) ENSP00000447158.1:n.-23+570C=
ENST00000547221.1:c.23+250C= (PSORS1C1) ENSP00000449471.1:n.23+250C=
ENST00000552747.1:n.724C= (PSORS1C1)
NM_014068.2:c.167+250C= (PSORS1C1) NP_054787.2:n.167+250C=
NM_014069.2:c.-3G= (PSORS1C2) NP_054788.2:n.-3G=
NM_014069.3:c.-3G= (PSORS1C2) MANE Select NP_054788.2:n.-3G=
NM_014068.3:c.167+250C= (PSORS1C1) MANE Select NP_054787.2:n.167+250C=