Canonical Allele Identifier: CA2677930513

Gene: PSORS1C1

Linked Data

• gnomAD v4: 6-31125606-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125606A>G , CM000668.2:g.31125606A>G	GRCh38
NC_000006.11:g.31093383A>G , CM000668.1:g.31093383A>G	GRCh37
NC_000006.10:g.31201362A>G	NCBI36
NG_021348.1:g.15776A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-228-70A>G MANE Select	ENSP00000259881.9:n.-228-70A>G
ENST00000259881.9:c.-228-70A>G	ENSP00000259881.9:n.-228-70A>G
ENST00000479581.5:n.61+10715A>G
ENST00000548049.1:n.120-73A>G
ENST00000550838.1:n.59-133A>G
ENST00000552747.1:n.53+10715A>G
NM_014068.2:c.-228-70A>G	NP_054787.2:n.-228-70A>G
NM_014068.3:c.-228-70A>G MANE Select	NP_054787.2:n.-228-70A>G