Canonical Allele Identifier: CA1087430707
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1772647839
gnomAD v3: 6-31125657-T-C
gnomAD v4: 6-31125657-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125657T>C , CM000668.2:g.31125657T>C GRCh38
NC_000006.11:g.31093434T>C , CM000668.1:g.31093434T>C GRCh37
NC_000006.10:g.31201413T>C NCBI36
NG_021348.1:g.15827T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-19T>C MANE Select ENSP00000259881.9:n.-228-19T>C
ENST00000259881.9:c.-228-19T>C ENSP00000259881.9:n.-228-19T>C
ENST00000479581.5:n.61+10766T>C
ENST00000548049.1:n.120-22T>C
ENST00000550838.1:n.59-82T>C
ENST00000552747.1:n.53+10766T>C
NM_014068.2:c.-228-19T>C NP_054787.2:n.-228-19T>C
NM_014068.3:c.-228-19T>C MANE Select NP_054787.2:n.-228-19T>C
Search 100 bp 5'
Search 100 bp 3'