Canonical Allele Identifier: CA1619021446
Gene: PSORS1C2 HGNC NCBI
PSORS1C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139059C= , CM000668.2:g.31139059C= GRCh38
NC_000006.11:g.31106836C= , CM000668.1:g.31106836C= GRCh37
NC_000006.10:g.31214815C= NCBI36
NG_021348.1:g.29229C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000259845.5:c.-33G= (PSORS1C2) MANE Select ENSP00000259845.4:n.-33G=
ENST00000259881.10:c.167+280C= (PSORS1C1) MANE Select ENSP00000259881.9:n.167+280C=
ENST00000259845.4:c.-33G= (PSORS1C2) ENSP00000259845.4:n.-33G=
ENST00000259881.9:c.167+280C= (PSORS1C1) ENSP00000259881.9:n.167+280C=
ENST00000479581.5:n.62-582C= (PSORS1C1)
ENST00000481450.2:c.-22-582C= (PSORS1C1) ENSP00000447158.1:n.-22-582C=
ENST00000547221.1:c.23+280C= (PSORS1C1) ENSP00000449471.1:n.23+280C=
ENST00000552747.1:n.754C= (PSORS1C1)
NM_014068.2:c.167+280C= (PSORS1C1) NP_054787.2:n.167+280C=
NM_014069.2:c.-33G= (PSORS1C2) NP_054788.2:n.-33G=
NM_014069.3:c.-33G= (PSORS1C2) MANE Select NP_054788.2:n.-33G=
NM_014068.3:c.167+280C= (PSORS1C1) MANE Select NP_054787.2:n.167+280C=