Canonical Allele Identifier: CA3708682

Gene: PSORS1C2 PSORS1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31138141C>T , CM000668.2:g.31138141C>T	GRCh38
NC_000006.11:g.31105918C>T , CM000668.1:g.31105918C>T	GRCh37
NC_000006.10:g.31213897C>T	NCBI36
NG_021348.1:g.28311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259845.5:c.221G>A (PSORS1C2) MANE Select	ENSP00000259845.4:p.Arg74Lys
ENST00000259881.10:c.14-289C>T (PSORS1C1) MANE Select	ENSP00000259881.9:n.14-289C>T
ENST00000259845.4:c.221G>A (PSORS1C2)	ENSP00000259845.4:p.Arg74Lys
ENST00000259881.9:c.14-289C>T (PSORS1C1)	ENSP00000259881.9:n.14-289C>T
ENST00000479581.5:n.62-1500C>T (PSORS1C1)
ENST00000547221.1:c.-202-218C>T (PSORS1C1)	ENSP00000449471.1:n.-202-218C>T
ENST00000550838.1:n.160-218C>T (PSORS1C1)
ENST00000552747.1:n.54-218C>T (PSORS1C1)
NM_014068.2:c.14-289C>T (PSORS1C1)	NP_054787.2:n.14-289C>T
NM_014069.2:c.221G>A (PSORS1C2)	NP_054788.2:p.Arg74Lys
NM_014069.3:c.221G>A (PSORS1C2) MANE Select	NP_054788.2:p.Arg74Lys
NM_014068.3:c.14-289C>T (PSORS1C1) MANE Select	NP_054787.2:n.14-289C>T