Canonical Allele Identifier: CA136818509
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1044384408
gnomAD v2: 6-31107343-G-A
gnomAD v3: 6-31139566-G-A
gnomAD v4: 6-31139566-G-A
MyVariant Identifiers: chr6:g.31107343G>A (hg19) chr6:g.31139566G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139566G>A , CM000668.2:g.31139566G>A GRCh38
NC_000006.11:g.31107343G>A , CM000668.1:g.31107343G>A GRCh37
NC_000006.10:g.31215322G>A NCBI36
NG_021348.1:g.29736G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-75G>A MANE Select ENSP00000259881.9:n.168-75G>A
ENST00000259881.9:c.168-75G>A ENSP00000259881.9:n.168-75G>A
ENST00000479581.5:n.62-75G>A
ENST00000481450.2:c.-22-75G>A ENSP00000447158.1:n.-22-75G>A
ENST00000547221.1:c.24-75G>A ENSP00000449471.1:n.24-75G>A
NM_014068.2:c.168-75G>A NP_054787.2:n.168-75G>A
NM_014068.3:c.168-75G>A MANE Select NP_054787.2:n.168-75G>A
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