Canonical Allele Identifier: CA2677930507
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125602-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125602A>C , CM000668.2:g.31125602A>C GRCh38
NC_000006.11:g.31093379A>C , CM000668.1:g.31093379A>C GRCh37
NC_000006.10:g.31201358A>C NCBI36
NG_021348.1:g.15772A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-74A>C MANE Select ENSP00000259881.9:n.-228-74A>C
ENST00000259881.9:c.-228-74A>C ENSP00000259881.9:n.-228-74A>C
ENST00000479581.5:n.61+10711A>C
ENST00000548049.1:n.120-77A>C
ENST00000550838.1:n.59-137A>C
ENST00000552747.1:n.53+10711A>C
NM_014068.2:c.-228-74A>C NP_054787.2:n.-228-74A>C
NM_014068.3:c.-228-74A>C MANE Select NP_054787.2:n.-228-74A>C
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