Canonical Allele Identifier: CA3708789

Gene: PSORS1C2 PSORS1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31138746G>A , CM000668.2:g.31138746G>A	GRCh38
NC_000006.11:g.31106523G>A , CM000668.1:g.31106523G>A	GRCh37
NC_000006.10:g.31214502G>A	NCBI36
NG_021348.1:g.28916G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014068.3:c.134G>A (PSORS1C1) MANE Select	NP_054787.2:p.Arg45Gln
NM_014069.3:c.55+226C>T (PSORS1C2) MANE Select	NP_054788.2:n.55+226C>T
ENST00000259845.5:c.55+226C>T (PSORS1C2) MANE Select	ENSP00000259845.4:n.55+226C>T
ENST00000259881.10:c.134G>A (PSORS1C1) MANE Select	ENSP00000259881.9:p.Arg45Gln
NM_014068.2:c.134G>A (PSORS1C1)	NP_054787.2:p.Arg45Gln
NM_014069.2:c.55+226C>T (PSORS1C2)	NP_054788.2:n.55+226C>T
ENST00000259845.4:c.55+226C>T (PSORS1C2)	ENSP00000259845.4:n.55+226C>T
ENST00000259881.9:c.134G>A (PSORS1C1)	ENSP00000259881.9:p.Arg45Gln
ENST00000479581.5:n.62-895G>A (PSORS1C1)
ENST00000481450.2:c.-23+287G>A (PSORS1C1)	ENSP00000447158.1:n.-23+287G>A
ENST00000547221.1:c.-11G>A (PSORS1C1)	ENSP00000449471.1:n.-11G>A
ENST00000552747.1:n.441G>A (PSORS1C1)