Canonical Allele Identifier: CA136808969
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs527562593
gnomAD v3: 6-31125680-C-T
gnomAD v4: 6-31125680-C-T
MyVariant Identifiers: chr6:g.31093457C>T (hg19) chr6:g.31125680C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125680C>T , CM000668.2:g.31125680C>T GRCh38
NC_000006.11:g.31093457C>T , CM000668.1:g.31093457C>T GRCh37
NC_000006.10:g.31201436C>T NCBI36
NG_021348.1:g.15850C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-224C>T MANE Select ENSP00000259881.9:n.-224C>T
ENST00000259881.9:c.-224C>T ENSP00000259881.9:n.-224C>T
ENST00000479581.5:n.61+10789C>T
ENST00000548049.1:n.121C>T
ENST00000550838.1:n.59-59C>T
ENST00000552747.1:n.53+10789C>T
NM_014068.2:c.-224C>T NP_054787.2:n.-224C>T
NM_014068.3:c.-224C>T MANE Select NP_054787.2:n.-224C>T
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