Canonical Allele Identifier: CA1619015551

Gene: PSORS1C1

Linked Data

• dbSNP Id: rs1772646747
• gnomAD v4: 6-31125620-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125620C>T , CM000668.2:g.31125620C>T	GRCh38
NC_000006.11:g.31093397C>T , CM000668.1:g.31093397C>T	GRCh37
NC_000006.10:g.31201376C>T	NCBI36
NG_021348.1:g.15790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-228-56C>T MANE Select	ENSP00000259881.9:n.-228-56C>T
ENST00000259881.9:c.-228-56C>T	ENSP00000259881.9:n.-228-56C>T
ENST00000479581.5:n.61+10729C>T
ENST00000548049.1:n.120-59C>T
ENST00000550838.1:n.59-119C>T
ENST00000552747.1:n.53+10729C>T
NM_014068.2:c.-228-56C>T	NP_054787.2:n.-228-56C>T
NM_014068.3:c.-228-56C>T MANE Select	NP_054787.2:n.-228-56C>T