Canonical Allele Identifier: CA136808977
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs955878190
gnomAD v4: 6-31125700-A-C
MyVariant Identifiers: chr6:g.31093477A>C (hg19) chr6:g.31125700A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125700A>C , CM000668.2:g.31125700A>C GRCh38
NC_000006.11:g.31093477A>C , CM000668.1:g.31093477A>C GRCh37
NC_000006.10:g.31201456A>C NCBI36
NG_021348.1:g.15870A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-204A>C MANE Select ENSP00000259881.9:n.-204A>C
ENST00000259881.9:c.-204A>C ENSP00000259881.9:n.-204A>C
ENST00000479581.5:n.61+10809A>C
ENST00000548049.1:n.141A>C
ENST00000550838.1:n.59-39A>C
ENST00000552747.1:n.53+10809A>C
NM_014068.2:c.-204A>C NP_054787.2:n.-204A>C
NM_014068.3:c.-204A>C MANE Select NP_054787.2:n.-204A>C
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