Canonical Allele Identifier: CA1087430700
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1258582357
gnomAD v3: 6-31125635-G-T
gnomAD v4: 6-31125635-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125635G>T , CM000668.2:g.31125635G>T GRCh38
NC_000006.11:g.31093412G>T , CM000668.1:g.31093412G>T GRCh37
NC_000006.10:g.31201391G>T NCBI36
NG_021348.1:g.15805G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-41G>T MANE Select ENSP00000259881.9:n.-228-41G>T
ENST00000259881.9:c.-228-41G>T ENSP00000259881.9:n.-228-41G>T
ENST00000479581.5:n.61+10744G>T
ENST00000548049.1:n.120-44G>T
ENST00000550838.1:n.59-104G>T
ENST00000552747.1:n.53+10744G>T
NM_014068.2:c.-228-41G>T NP_054787.2:n.-228-41G>T
NM_014068.3:c.-228-41G>T MANE Select NP_054787.2:n.-228-41G>T
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