Canonical Allele Identifier: CA823833967
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1409914386
gnomAD v3: 6-31139536-C-A
gnomAD v4: 6-31139536-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139536C>A , CM000668.2:g.31139536C>A GRCh38
NC_000006.11:g.31107313C>A , CM000668.1:g.31107313C>A GRCh37
NC_000006.10:g.31215292C>A NCBI36
NG_021348.1:g.29706C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-105C>A MANE Select ENSP00000259881.9:n.168-105C>A
ENST00000259881.9:c.168-105C>A ENSP00000259881.9:n.168-105C>A
ENST00000479581.5:n.62-105C>A
ENST00000481450.2:c.-22-105C>A ENSP00000447158.1:n.-22-105C>A
ENST00000547221.1:c.24-105C>A ENSP00000449471.1:n.24-105C>A
NM_014068.2:c.168-105C>A NP_054787.2:n.168-105C>A
NM_014068.3:c.168-105C>A MANE Select NP_054787.2:n.168-105C>A