Canonical Allele Identifier: CA823854807
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1343580566
gnomAD v3: 6-31125659-T-A
gnomAD v4: 6-31125659-T-A
MyVariant Identifiers: chr6:g.31093436T>A (hg19) chr6:g.31125659T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125659T>A , CM000668.2:g.31125659T>A GRCh38
NC_000006.11:g.31093436T>A , CM000668.1:g.31093436T>A GRCh37
NC_000006.10:g.31201415T>A NCBI36
NG_021348.1:g.15829T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-17T>A MANE Select ENSP00000259881.9:n.-228-17T>A
ENST00000259881.9:c.-228-17T>A ENSP00000259881.9:n.-228-17T>A
ENST00000479581.5:n.61+10768T>A
ENST00000548049.1:n.120-20T>A
ENST00000550838.1:n.59-80T>A
ENST00000552747.1:n.53+10768T>A
NM_014068.2:c.-228-17T>A NP_054787.2:n.-228-17T>A
NM_014068.3:c.-228-17T>A MANE Select NP_054787.2:n.-228-17T>A
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