Canonical Allele Identifier: CA1619021476
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139151A= , CM000668.2:g.31139151A= GRCh38
NC_000006.11:g.31106928A= , CM000668.1:g.31106928A= GRCh37
NC_000006.10:g.31214907A= NCBI36
NG_021348.1:g.29321A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.167+372A= (PSORS1C1) MANE Select ENSP00000259881.9:n.167+372A=
ENST00000259845.4:c.-125T= (PSORS1C2) ENSP00000259845.4:n.-125T=
ENST00000259881.9:c.167+372A= (PSORS1C1) ENSP00000259881.9:n.167+372A=
ENST00000479581.5:n.62-490A= (PSORS1C1)
ENST00000481450.2:c.-22-490A= (PSORS1C1) ENSP00000447158.1:n.-22-490A=
ENST00000547221.1:c.23+372A= (PSORS1C1) ENSP00000449471.1:n.23+372A=
ENST00000552747.1:n.846A= (PSORS1C1)
NM_014068.2:c.167+372A= (PSORS1C1) NP_054787.2:n.167+372A=
NM_014069.2:c.-125T= (PSORS1C2) NP_054788.2:n.-125T=
NM_014068.3:c.167+372A= (PSORS1C1) MANE Select NP_054787.2:n.167+372A=
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