Canonical Allele Identifier: CA2677930630
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125694-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125694A>C , CM000668.2:g.31125694A>C GRCh38
NC_000006.11:g.31093471A>C , CM000668.1:g.31093471A>C GRCh37
NC_000006.10:g.31201450A>C NCBI36
NG_021348.1:g.15864A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-210A>C MANE Select ENSP00000259881.9:n.-210A>C
ENST00000259881.9:c.-210A>C ENSP00000259881.9:n.-210A>C
ENST00000479581.5:n.61+10803A>C
ENST00000548049.1:n.135A>C
ENST00000550838.1:n.59-45A>C
ENST00000552747.1:n.53+10803A>C
NM_014068.2:c.-210A>C NP_054787.2:n.-210A>C
NM_014068.3:c.-210A>C MANE Select NP_054787.2:n.-210A>C
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