Canonical Allele Identifier: CA2677932231

Gene: PSORS1C1 PSORS1C2

Linked Data

• gnomAD v4: 6-31139201-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139201G>T , CM000668.2:g.31139201G>T	GRCh38
NC_000006.11:g.31106978G>T , CM000668.1:g.31106978G>T	GRCh37
NC_000006.10:g.31214957G>T	NCBI36
NG_021348.1:g.29371G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.167+422G>T (PSORS1C1) MANE Select	ENSP00000259881.9:n.167+422G>T
ENST00000259845.4:c.-175C>A (PSORS1C2)	ENSP00000259845.4:n.-175C>A
ENST00000259881.9:c.167+422G>T (PSORS1C1)	ENSP00000259881.9:n.167+422G>T
ENST00000479581.5:n.62-440G>T (PSORS1C1)
ENST00000481450.2:c.-22-440G>T (PSORS1C1)	ENSP00000447158.1:n.-22-440G>T
ENST00000547221.1:c.23+422G>T (PSORS1C1)	ENSP00000449471.1:n.23+422G>T
ENST00000552747.1:n.896G>T (PSORS1C1)
NM_014068.2:c.167+422G>T (PSORS1C1)	NP_054787.2:n.167+422G>T
NM_014069.2:c.-175C>A (PSORS1C2)	NP_054788.2:n.-175C>A
NM_014068.3:c.167+422G>T (PSORS1C1) MANE Select	NP_054787.2:n.167+422G>T