Canonical Allele Identifier: CA363323562

Gene: PSORS1C2 PSORS1C1

Linked Data

• gnomAD v4: 6-31139023-T-C
• MyVariant Identifiers: chr6:g.31106800T>C (hg19) ; chr6:g.31139023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139023T>C , CM000668.2:g.31139023T>C	GRCh38
NC_000006.11:g.31106800T>C , CM000668.1:g.31106800T>C	GRCh37
NC_000006.10:g.31214779T>C	NCBI36
NG_021348.1:g.29193T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.4A>G (PSORS1C2) MANE Select	ENSP00000259845.4:p.Ile2Val
ENST00000259881.10:c.167+244T>C (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+244T>C
ENST00000259845.4:c.4A>G (PSORS1C2)	ENSP00000259845.4:p.Ile2Val
ENST00000259881.9:c.167+244T>C (PSORS1C1)	ENSP00000259881.9:n.167+244T>C
ENST00000479581.5:n.62-618T>C (PSORS1C1)
ENST00000481450.2:c.-23+564T>C (PSORS1C1)	ENSP00000447158.1:n.-23+564T>C
ENST00000547221.1:c.23+244T>C (PSORS1C1)	ENSP00000449471.1:n.23+244T>C
ENST00000552747.1:n.718T>C (PSORS1C1)
NM_014068.2:c.167+244T>C (PSORS1C1)	NP_054787.2:n.167+244T>C
NM_014069.2:c.4A>G (PSORS1C2)	NP_054788.2:p.Ile2Val
NM_014069.3:c.4A>G (PSORS1C2) MANE Select	NP_054788.2:p.Ile2Val
NM_014068.3:c.167+244T>C (PSORS1C1) MANE Select	NP_054787.2:n.167+244T>C