Canonical Allele Identifier: CA1619021486
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139172A= , CM000668.2:g.31139172A= GRCh38
NC_000006.11:g.31106949A= , CM000668.1:g.31106949A= GRCh37
NC_000006.10:g.31214928A= NCBI36
NG_021348.1:g.29342A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.167+393A= (PSORS1C1) MANE Select ENSP00000259881.9:n.167+393A=
ENST00000259845.4:c.-146T= (PSORS1C2) ENSP00000259845.4:n.-146T=
ENST00000259881.9:c.167+393A= (PSORS1C1) ENSP00000259881.9:n.167+393A=
ENST00000479581.5:n.62-469A= (PSORS1C1)
ENST00000481450.2:c.-22-469A= (PSORS1C1) ENSP00000447158.1:n.-22-469A=
ENST00000547221.1:c.23+393A= (PSORS1C1) ENSP00000449471.1:n.23+393A=
ENST00000552747.1:n.867A= (PSORS1C1)
NM_014068.2:c.167+393A= (PSORS1C1) NP_054787.2:n.167+393A=
NM_014069.2:c.-146T= (PSORS1C2) NP_054788.2:n.-146T=
NM_014068.3:c.167+393A= (PSORS1C1) MANE Select NP_054787.2:n.167+393A=