Canonical Allele Identifier: CA2677930781
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125774-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125774G>T , CM000668.2:g.31125774G>T GRCh38
NC_000006.11:g.31093551G>T , CM000668.1:g.31093551G>T GRCh37
NC_000006.10:g.31201530G>T NCBI36
NG_021348.1:g.15944G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-130G>T MANE Select ENSP00000259881.9:n.-130G>T
ENST00000259881.9:c.-130G>T ENSP00000259881.9:n.-130G>T
ENST00000479581.5:n.61+10883G>T
ENST00000548049.1:n.215G>T
ENST00000550838.1:n.94G>T
ENST00000552747.1:n.53+10883G>T
NM_014068.2:c.-130G>T NP_054787.2:n.-130G>T
NM_014068.3:c.-130G>T MANE Select NP_054787.2:n.-130G>T
Search 100 bp 5'
Search 100 bp 3'