Canonical Allele Identifier: CA1087430797
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1772655360
gnomAD v3: 6-31125787-A-G
gnomAD v4: 6-31125787-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125787A>G , CM000668.2:g.31125787A>G GRCh38
NC_000006.11:g.31093564A>G , CM000668.1:g.31093564A>G GRCh37
NC_000006.10:g.31201543A>G NCBI36
NG_021348.1:g.15957A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-117A>G MANE Select ENSP00000259881.9:n.-117A>G
ENST00000259881.9:c.-117A>G ENSP00000259881.9:n.-117A>G
ENST00000479581.5:n.61+10896A>G
ENST00000548049.1:n.228A>G
ENST00000550838.1:n.107A>G
ENST00000552747.1:n.53+10896A>G
NM_014068.2:c.-117A>G NP_054787.2:n.-117A>G
NM_014068.3:c.-117A>G MANE Select NP_054787.2:n.-117A>G
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