Canonical Allele Identifier: CA3708818

Gene: PSORS1C2 PSORS1C1

Linked Data

• dbSNP Id: rs753302716
• ExAC: 6:31106806 C / A
• gnomAD v2: 6-31106806-C-A
• gnomAD v3: 6-31139029-C-A
• gnomAD v4: 6-31139029-C-A
• MyVariant Identifiers: chr6:g.31106806C>A (hg19) ; chr6:g.31139029C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139029C>A , CM000668.2:g.31139029C>A	GRCh38
NC_000006.11:g.31106806C>A , CM000668.1:g.31106806C>A	GRCh37
NC_000006.10:g.31214785C>A	NCBI36
NG_021348.1:g.29199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.-3G>T (PSORS1C2) MANE Select	ENSP00000259845.4:n.-3G>T
ENST00000259881.10:c.167+250C>A (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+250C>A
ENST00000259845.4:c.-3G>T (PSORS1C2)	ENSP00000259845.4:n.-3G>T
ENST00000259881.9:c.167+250C>A (PSORS1C1)	ENSP00000259881.9:n.167+250C>A
ENST00000479581.5:n.62-612C>A (PSORS1C1)
ENST00000481450.2:c.-23+570C>A (PSORS1C1)	ENSP00000447158.1:n.-23+570C>A
ENST00000547221.1:c.23+250C>A (PSORS1C1)	ENSP00000449471.1:n.23+250C>A
ENST00000552747.1:n.724C>A (PSORS1C1)
NM_014068.2:c.167+250C>A (PSORS1C1)	NP_054787.2:n.167+250C>A
NM_014069.2:c.-3G>T (PSORS1C2)	NP_054788.2:n.-3G>T
NM_014069.3:c.-3G>T (PSORS1C2) MANE Select	NP_054788.2:n.-3G>T
NM_014068.3:c.167+250C>A (PSORS1C1) MANE Select	NP_054787.2:n.167+250C>A