Canonical Allele Identifier: CA2677930521
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125616-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125616T>C , CM000668.2:g.31125616T>C GRCh38
NC_000006.11:g.31093393T>C , CM000668.1:g.31093393T>C GRCh37
NC_000006.10:g.31201372T>C NCBI36
NG_021348.1:g.15786T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-60T>C MANE Select ENSP00000259881.9:n.-228-60T>C
ENST00000259881.9:c.-228-60T>C ENSP00000259881.9:n.-228-60T>C
ENST00000479581.5:n.61+10725T>C
ENST00000548049.1:n.120-63T>C
ENST00000550838.1:n.59-123T>C
ENST00000552747.1:n.53+10725T>C
NM_014068.2:c.-228-60T>C NP_054787.2:n.-228-60T>C
NM_014068.3:c.-228-60T>C MANE Select NP_054787.2:n.-228-60T>C
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