Canonical Allele Identifier: CA1619021315

Gene: PSORS1C2 PSORS1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31138722G= , CM000668.2:g.31138722G=	GRCh38
NC_000006.11:g.31106499G= , CM000668.1:g.31106499G=	GRCh37
NC_000006.10:g.31214478G=	NCBI36
NG_021348.1:g.28892G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.55+250C= (PSORS1C2) MANE Select	ENSP00000259845.4:n.55+250C=
ENST00000259881.10:c.110G= (PSORS1C1) MANE Select	ENSP00000259881.9:p.Arg37=
ENST00000259845.4:c.55+250C= (PSORS1C2)	ENSP00000259845.4:n.55+250C=
ENST00000259881.9:c.110G= (PSORS1C1)	ENSP00000259881.9:p.Arg37=
ENST00000479581.5:n.62-919G= (PSORS1C1)
ENST00000481450.2:c.-23+263G= (PSORS1C1)	ENSP00000447158.1:n.-23+263G=
ENST00000547221.1:c.-35G= (PSORS1C1)	ENSP00000449471.1:n.-35G=
ENST00000550838.1:n.523G= (PSORS1C1)
ENST00000552747.1:n.417G= (PSORS1C1)
NM_014068.2:c.110G= (PSORS1C1)	NP_054787.2:p.Arg37=
NM_014069.2:c.55+250C= (PSORS1C2)	NP_054788.2:n.55+250C=
NM_014069.3:c.55+250C= (PSORS1C2) MANE Select	NP_054788.2:n.55+250C=
NM_014068.3:c.110G= (PSORS1C1) MANE Select	NP_054787.2:p.Arg37=