Canonical Allele Identifier: CA2677932074

Gene: PSORS1C1 PSORS1C2

Linked Data

• gnomAD v4: 6-31139122-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139122C>G , CM000668.2:g.31139122C>G	GRCh38
NC_000006.11:g.31106899C>G , CM000668.1:g.31106899C>G	GRCh37
NC_000006.10:g.31214878C>G	NCBI36
NG_021348.1:g.29292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+343C>G (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+343C>G
ENST00000259845.4:c.-96G>C (PSORS1C2)	ENSP00000259845.4:n.-96G>C
ENST00000259881.9:c.167+343C>G (PSORS1C1)	ENSP00000259881.9:n.167+343C>G
ENST00000479581.5:n.62-519C>G (PSORS1C1)
ENST00000481450.2:c.-22-519C>G (PSORS1C1)	ENSP00000447158.1:n.-22-519C>G
ENST00000547221.1:c.23+343C>G (PSORS1C1)	ENSP00000449471.1:n.23+343C>G
ENST00000552747.1:n.817C>G (PSORS1C1)
NM_014068.2:c.167+343C>G (PSORS1C1)	NP_054787.2:n.167+343C>G
NM_014069.2:c.-96G>C (PSORS1C2)	NP_054788.2:n.-96G>C
NM_014068.3:c.167+343C>G (PSORS1C1) MANE Select	NP_054787.2:n.167+343C>G