Canonical Allele Identifier: CA2677930596

Gene: PSORS1C1

Linked Data

• gnomAD v4: 6-31125674-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125674A>G , CM000668.2:g.31125674A>G	GRCh38
NC_000006.11:g.31093451A>G , CM000668.1:g.31093451A>G	GRCh37
NC_000006.10:g.31201430A>G	NCBI36
NG_021348.1:g.15844A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-228-2A>G MANE Select	ENSP00000259881.9:n.-228-2A>G
ENST00000259881.9:c.-228-2A>G	ENSP00000259881.9:n.-228-2A>G
ENST00000479581.5:n.61+10783A>G
ENST00000548049.1:n.120-5A>G
ENST00000550838.1:n.59-65A>G
ENST00000552747.1:n.53+10783A>G
NM_014068.2:c.-228-2A>G	NP_054787.2:n.-228-2A>G
NM_014068.3:c.-228-2A>G MANE Select	NP_054787.2:n.-228-2A>G