Canonical Allele Identifier: CA136818464
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs904044883
gnomAD v2: 6-31107254-G-A
gnomAD v3: 6-31139477-G-A
gnomAD v4: 6-31139477-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139477G>A , CM000668.2:g.31139477G>A GRCh38
NC_000006.11:g.31107254G>A , CM000668.1:g.31107254G>A GRCh37
NC_000006.10:g.31215233G>A NCBI36
NG_021348.1:g.29647G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-164G>A MANE Select ENSP00000259881.9:n.168-164G>A
ENST00000259881.9:c.168-164G>A ENSP00000259881.9:n.168-164G>A
ENST00000479581.5:n.62-164G>A
ENST00000481450.2:c.-22-164G>A ENSP00000447158.1:n.-22-164G>A
ENST00000547221.1:c.24-164G>A ENSP00000449471.1:n.24-164G>A
NM_014068.2:c.168-164G>A NP_054787.2:n.168-164G>A
NM_014068.3:c.168-164G>A MANE Select NP_054787.2:n.168-164G>A