Canonical Allele Identifier: CA136818338

Gene: PSORS1C1 PSORS1C2

Linked Data

• dbSNP Id: rs558483001
• gnomAD v3: 6-31139124-A-G
• gnomAD v4: 6-31139124-A-G
• MyVariant Identifiers: chr6:g.31106901A>G (hg19) ; chr6:g.31139124A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139124A>G , CM000668.2:g.31139124A>G	GRCh38
NC_000006.11:g.31106901A>G , CM000668.1:g.31106901A>G	GRCh37
NC_000006.10:g.31214880A>G	NCBI36
NG_021348.1:g.29294A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+345A>G (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+345A>G
ENST00000259845.4:c.-98T>C (PSORS1C2)	ENSP00000259845.4:n.-98T>C
ENST00000259881.9:c.167+345A>G (PSORS1C1)	ENSP00000259881.9:n.167+345A>G
ENST00000479581.5:n.62-517A>G (PSORS1C1)
ENST00000481450.2:c.-22-517A>G (PSORS1C1)	ENSP00000447158.1:n.-22-517A>G
ENST00000547221.1:c.23+345A>G (PSORS1C1)	ENSP00000449471.1:n.23+345A>G
ENST00000552747.1:n.819A>G (PSORS1C1)
NM_014068.2:c.167+345A>G (PSORS1C1)	NP_054787.2:n.167+345A>G
NM_014069.2:c.-98T>C (PSORS1C2)	NP_054788.2:n.-98T>C
NM_014068.3:c.167+345A>G (PSORS1C1) MANE Select	NP_054787.2:n.167+345A>G