Canonical Allele Identifier: CA2677930601

Gene: PSORS1C1

Linked Data

• gnomAD v4: 6-31125677-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125677A>G , CM000668.2:g.31125677A>G	GRCh38
NC_000006.11:g.31093454A>G , CM000668.1:g.31093454A>G	GRCh37
NC_000006.10:g.31201433A>G	NCBI36
NG_021348.1:g.15847A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-227A>G MANE Select	ENSP00000259881.9:n.-227A>G
ENST00000259881.9:c.-227A>G	ENSP00000259881.9:n.-227A>G
ENST00000479581.5:n.61+10786A>G
ENST00000548049.1:n.120-2A>G
ENST00000550838.1:n.59-62A>G
ENST00000552747.1:n.53+10786A>G
NM_014068.2:c.-227A>G	NP_054787.2:n.-227A>G
NM_014068.3:c.-227A>G MANE Select	NP_054787.2:n.-227A>G