Canonical Allele Identifier: CA2677931975

Gene: PSORS1C1 PSORS1C2

Linked Data

• gnomAD v4: 6-31139069-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139069G>C , CM000668.2:g.31139069G>C	GRCh38
NC_000006.11:g.31106846G>C , CM000668.1:g.31106846G>C	GRCh37
NC_000006.10:g.31214825G>C	NCBI36
NG_021348.1:g.29239G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+290G>C (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+290G>C
ENST00000259845.4:c.-43C>G (PSORS1C2)	ENSP00000259845.4:n.-43C>G
ENST00000259881.9:c.167+290G>C (PSORS1C1)	ENSP00000259881.9:n.167+290G>C
ENST00000479581.5:n.62-572G>C (PSORS1C1)
ENST00000481450.2:c.-22-572G>C (PSORS1C1)	ENSP00000447158.1:n.-22-572G>C
ENST00000547221.1:c.23+290G>C (PSORS1C1)	ENSP00000449471.1:n.23+290G>C
ENST00000552747.1:n.764G>C (PSORS1C1)
NM_014068.2:c.167+290G>C (PSORS1C1)	NP_054787.2:n.167+290G>C
NM_014069.2:c.-43C>G (PSORS1C2)	NP_054788.2:n.-43C>G
NM_014068.3:c.167+290G>C (PSORS1C1) MANE Select	NP_054787.2:n.167+290G>C