Canonical Allele Identifier: CA3708823

Gene: PSORS1C1 PSORS1C2

Linked Data

• dbSNP Id: rs758816603
• ExAC: 6:31106845 G / C
• gnomAD v2: 6-31106845-G-C
• gnomAD v4: 6-31139068-G-C
• MyVariant Identifiers: chr6:g.31106845G>C (hg19) ; chr6:g.31139068G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139068G>C , CM000668.2:g.31139068G>C	GRCh38
NC_000006.11:g.31106845G>C , CM000668.1:g.31106845G>C	GRCh37
NC_000006.10:g.31214824G>C	NCBI36
NG_021348.1:g.29238G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+289G>C (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+289G>C
ENST00000259845.4:c.-42C>G (PSORS1C2)	ENSP00000259845.4:n.-42C>G
ENST00000259881.9:c.167+289G>C (PSORS1C1)	ENSP00000259881.9:n.167+289G>C
ENST00000479581.5:n.62-573G>C (PSORS1C1)
ENST00000481450.2:c.-22-573G>C (PSORS1C1)	ENSP00000447158.1:n.-22-573G>C
ENST00000547221.1:c.23+289G>C (PSORS1C1)	ENSP00000449471.1:n.23+289G>C
ENST00000552747.1:n.763G>C (PSORS1C1)
NM_014068.2:c.167+289G>C (PSORS1C1)	NP_054787.2:n.167+289G>C
NM_014069.2:c.-42C>G (PSORS1C2)	NP_054788.2:n.-42C>G
NM_014068.3:c.167+289G>C (PSORS1C1) MANE Select	NP_054787.2:n.167+289G>C