Canonical Allele Identifier: CA1619021454
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139073C= , CM000668.2:g.31139073C= GRCh38
NC_000006.11:g.31106850C= , CM000668.1:g.31106850C= GRCh37
NC_000006.10:g.31214829C= NCBI36
NG_021348.1:g.29243C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.167+294C= (PSORS1C1) MANE Select ENSP00000259881.9:n.167+294C=
ENST00000259845.4:c.-47G= (PSORS1C2) ENSP00000259845.4:n.-47G=
ENST00000259881.9:c.167+294C= (PSORS1C1) ENSP00000259881.9:n.167+294C=
ENST00000479581.5:n.62-568C= (PSORS1C1)
ENST00000481450.2:c.-22-568C= (PSORS1C1) ENSP00000447158.1:n.-22-568C=
ENST00000547221.1:c.23+294C= (PSORS1C1) ENSP00000449471.1:n.23+294C=
ENST00000552747.1:n.768C= (PSORS1C1)
NM_014068.2:c.167+294C= (PSORS1C1) NP_054787.2:n.167+294C=
NM_014069.2:c.-47G= (PSORS1C2) NP_054788.2:n.-47G=
NM_014068.3:c.167+294C= (PSORS1C1) MANE Select NP_054787.2:n.167+294C=
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