Canonical Allele Identifier: CA363323556

Gene: PSORS1C2 PSORS1C1

Linked Data

• gnomAD v4: 6-31139022-A-G
• MyVariant Identifiers: chr6:g.31106799A>G (hg19) ; chr6:g.31139022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139022A>G , CM000668.2:g.31139022A>G	GRCh38
NC_000006.11:g.31106799A>G , CM000668.1:g.31106799A>G	GRCh37
NC_000006.10:g.31214778A>G	NCBI36
NG_021348.1:g.29192A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.5T>C (PSORS1C2) MANE Select	ENSP00000259845.4:p.Ile2Thr
ENST00000259881.10:c.167+243A>G (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+243A>G
ENST00000259845.4:c.5T>C (PSORS1C2)	ENSP00000259845.4:p.Ile2Thr
ENST00000259881.9:c.167+243A>G (PSORS1C1)	ENSP00000259881.9:n.167+243A>G
ENST00000479581.5:n.62-619A>G (PSORS1C1)
ENST00000481450.2:c.-23+563A>G (PSORS1C1)	ENSP00000447158.1:n.-23+563A>G
ENST00000547221.1:c.23+243A>G (PSORS1C1)	ENSP00000449471.1:n.23+243A>G
ENST00000552747.1:n.717A>G (PSORS1C1)
NM_014068.2:c.167+243A>G (PSORS1C1)	NP_054787.2:n.167+243A>G
NM_014069.2:c.5T>C (PSORS1C2)	NP_054788.2:p.Ile2Thr
NM_014069.3:c.5T>C (PSORS1C2) MANE Select	NP_054788.2:p.Ile2Thr
NM_014068.3:c.167+243A>G (PSORS1C1) MANE Select	NP_054787.2:n.167+243A>G