Canonical Allele Identifier: CA2677930980
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125919-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125919C>A , CM000668.2:g.31125919C>A GRCh38
NC_000006.11:g.31093696C>A , CM000668.1:g.31093696C>A GRCh37
NC_000006.10:g.31201675C>A NCBI36
NG_021348.1:g.16089C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-65+80C>A MANE Select ENSP00000259881.9:n.-65+80C>A
ENST00000259881.9:c.-65+80C>A ENSP00000259881.9:n.-65+80C>A
ENST00000479581.5:n.61+11028C>A
ENST00000548049.1:n.280+80C>A
ENST00000550838.1:n.159+80C>A
ENST00000552747.1:n.53+11028C>A
NM_014068.2:c.-65+80C>A NP_054787.2:n.-65+80C>A
NM_014068.3:c.-65+80C>A MANE Select NP_054787.2:n.-65+80C>A
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