Canonical Allele Identifier: CA3708473
Gene: PSORS1C1 HGNC NCBI
CDSN HGNC NCBI

Linked Data

dbSNP Id: rs779008800
gnomAD v2: 6-31084841-C-T
gnomAD v3: 6-31117064-C-T
gnomAD v4: 6-31117064-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31117064C>T , CM000668.2:g.31117064C>T GRCh38
NC_000006.11:g.31084841C>T , CM000668.1:g.31084841C>T GRCh37
NC_000006.10:g.31192820C>T NCBI36
NG_012192.1:g.8383G>A
NG_021348.1:g.7234C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-229+2173C>T (PSORS1C1) MANE Select ENSP00000259881.9:n.-229+2173C>T
ENST00000376288.3:c.551G>A (CDSN) MANE Select ENSP00000365465.2:p.Arg184His
ENST00000259881.9:c.-229+2173C>T (PSORS1C1) ENSP00000259881.9:n.-229+2173C>T
ENST00000376288.2:c.551G>A (CDSN) ENSP00000365465.2:p.Arg184His
ENST00000467107.1:n.2071C>T (PSORS1C1)
ENST00000479581.5:n.61+2173C>T (PSORS1C1)
ENST00000493289.1:n.68-26C>T (PSORS1C1)
ENST00000548049.1:n.119+2173C>T (PSORS1C1)
ENST00000550838.1:n.58+2173C>T (PSORS1C1)
ENST00000552747.1:n.53+2173C>T (PSORS1C1)
NM_001264.4:c.551G>A (CDSN) NP_001255.3:p.Arg184His
NM_014068.2:c.-229+2173C>T (PSORS1C1) NP_054787.2:n.-229+2173C>T
NM_001264.5:c.551G>A (CDSN) MANE Select NP_001255.4:p.Arg184His
NM_014068.3:c.-229+2173C>T (PSORS1C1) MANE Select NP_054787.2:n.-229+2173C>T