Canonical Allele Identifier: CA1619021461
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139095T= , CM000668.2:g.31139095T= GRCh38
NC_000006.11:g.31106872T= , CM000668.1:g.31106872T= GRCh37
NC_000006.10:g.31214851T= NCBI36
NG_021348.1:g.29265T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.167+316T= (PSORS1C1) MANE Select ENSP00000259881.9:n.167+316T=
ENST00000259845.4:c.-69A= (PSORS1C2) ENSP00000259845.4:n.-69A=
ENST00000259881.9:c.167+316T= (PSORS1C1) ENSP00000259881.9:n.167+316T=
ENST00000479581.5:n.62-546T= (PSORS1C1)
ENST00000481450.2:c.-22-546T= (PSORS1C1) ENSP00000447158.1:n.-22-546T=
ENST00000547221.1:c.23+316T= (PSORS1C1) ENSP00000449471.1:n.23+316T=
ENST00000552747.1:n.790T= (PSORS1C1)
NM_014068.2:c.167+316T= (PSORS1C1) NP_054787.2:n.167+316T=
NM_014069.2:c.-69A= (PSORS1C2) NP_054788.2:n.-69A=
NM_014068.3:c.167+316T= (PSORS1C1) MANE Select NP_054787.2:n.167+316T=
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