Canonical Allele Identifier: CA1619021496
Gene: PSORS1C1 HGNC NCBI
PSORS1C2 HGNC NCBI

Linked Data

dbSNP Id: rs1773322544

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139207T>C , CM000668.2:g.31139207T>C GRCh38
NC_000006.11:g.31106984T>C , CM000668.1:g.31106984T>C GRCh37
NC_000006.10:g.31214963T>C NCBI36
NG_021348.1:g.29377T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.167+428T>C (PSORS1C1) MANE Select ENSP00000259881.9:n.167+428T>C
ENST00000259845.4:c.-181A>G (PSORS1C2) ENSP00000259845.4:n.-181A>G
ENST00000259881.9:c.167+428T>C (PSORS1C1) ENSP00000259881.9:n.167+428T>C
ENST00000479581.5:n.62-434T>C (PSORS1C1)
ENST00000481450.2:c.-22-434T>C (PSORS1C1) ENSP00000447158.1:n.-22-434T>C
ENST00000547221.1:c.23+428T>C (PSORS1C1) ENSP00000449471.1:n.23+428T>C
ENST00000552747.1:n.902T>C (PSORS1C1)
NM_014068.2:c.167+428T>C (PSORS1C1) NP_054787.2:n.167+428T>C
NM_014069.2:c.-181A>G (PSORS1C2) NP_054788.2:n.-181A>G
NM_014068.3:c.167+428T>C (PSORS1C1) MANE Select NP_054787.2:n.167+428T>C