Canonical Allele Identifier: CA2677930531
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125627-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125627G>A , CM000668.2:g.31125627G>A GRCh38
NC_000006.11:g.31093404G>A , CM000668.1:g.31093404G>A GRCh37
NC_000006.10:g.31201383G>A NCBI36
NG_021348.1:g.15797G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-49G>A MANE Select ENSP00000259881.9:n.-228-49G>A
ENST00000259881.9:c.-228-49G>A ENSP00000259881.9:n.-228-49G>A
ENST00000479581.5:n.61+10736G>A
ENST00000548049.1:n.120-52G>A
ENST00000550838.1:n.59-112G>A
ENST00000552747.1:n.53+10736G>A
NM_014068.2:c.-228-49G>A NP_054787.2:n.-228-49G>A
NM_014068.3:c.-228-49G>A MANE Select NP_054787.2:n.-228-49G>A
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