Canonical Allele Identifier: CA823854803
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs1344519396
gnomAD v3: 6-31125646-C-G
gnomAD v4: 6-31125646-C-G
MyVariant Identifiers: chr6:g.31093423C>G (hg19) chr6:g.31125646C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125646C>G , CM000668.2:g.31125646C>G GRCh38
NC_000006.11:g.31093423C>G , CM000668.1:g.31093423C>G GRCh37
NC_000006.10:g.31201402C>G NCBI36
NG_021348.1:g.15816C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-228-30C>G MANE Select ENSP00000259881.9:n.-228-30C>G
ENST00000259881.9:c.-228-30C>G ENSP00000259881.9:n.-228-30C>G
ENST00000479581.5:n.61+10755C>G
ENST00000548049.1:n.120-33C>G
ENST00000550838.1:n.59-93C>G
ENST00000552747.1:n.53+10755C>G
NM_014068.2:c.-228-30C>G NP_054787.2:n.-228-30C>G
NM_014068.3:c.-228-30C>G MANE Select NP_054787.2:n.-228-30C>G
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