Canonical Allele Identifier: CA363323543
Gene: PSORS1C2 HGNC NCBI
PSORS1C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139017T>C , CM000668.2:g.31139017T>C GRCh38
NC_000006.11:g.31106794T>C , CM000668.1:g.31106794T>C GRCh37
NC_000006.10:g.31214773T>C NCBI36
NG_021348.1:g.29187T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259845.5:c.10A>G (PSORS1C2) MANE Select ENSP00000259845.4:p.Asn4Asp
ENST00000259881.10:c.167+238T>C (PSORS1C1) MANE Select ENSP00000259881.9:n.167+238T>C
ENST00000259845.4:c.10A>G (PSORS1C2) ENSP00000259845.4:p.Asn4Asp
ENST00000259881.9:c.167+238T>C (PSORS1C1) ENSP00000259881.9:n.167+238T>C
ENST00000479581.5:n.62-624T>C (PSORS1C1)
ENST00000481450.2:c.-23+558T>C (PSORS1C1) ENSP00000447158.1:n.-23+558T>C
ENST00000547221.1:c.23+238T>C (PSORS1C1) ENSP00000449471.1:n.23+238T>C
ENST00000552747.1:n.712T>C (PSORS1C1)
NM_014068.2:c.167+238T>C (PSORS1C1) NP_054787.2:n.167+238T>C
NM_014069.2:c.10A>G (PSORS1C2) NP_054788.2:p.Asn4Asp
NM_014069.3:c.10A>G (PSORS1C2) MANE Select NP_054788.2:p.Asn4Asp
NM_014068.3:c.167+238T>C (PSORS1C1) MANE Select NP_054787.2:n.167+238T>C