Canonical Allele Identifier: CA2581560895

Gene: PSORS1C2 PSORS1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31138491A>T , CM000668.2:g.31138491A>T	GRCh38
NC_000006.11:g.31106268A>T , CM000668.1:g.31106268A>T	GRCh37
NC_000006.10:g.31214247A>T	NCBI36
NG_021348.1:g.28661A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014068.3:c.43+32A>T (PSORS1C1) MANE Select	NP_054787.2:n.43+32A>T
NM_014069.3:c.56-185T>A (PSORS1C2) MANE Select	NP_054788.2:n.56-185T>A
ENST00000259845.5:c.56-185T>A (PSORS1C2) MANE Select	ENSP00000259845.4:n.56-185T>A
ENST00000259881.10:c.43+32A>T (PSORS1C1) MANE Select	ENSP00000259881.9:n.43+32A>T
NM_014068.2:c.43+32A>T (PSORS1C1)	NP_054787.2:n.43+32A>T
NM_014069.2:c.56-185T>A (PSORS1C2)	NP_054788.2:n.56-185T>A
ENST00000259845.4:c.56-185T>A (PSORS1C2)	ENSP00000259845.4:n.56-185T>A
ENST00000259881.9:c.43+32A>T (PSORS1C1)	ENSP00000259881.9:n.43+32A>T
ENST00000479581.5:n.62-1150A>T (PSORS1C1)
ENST00000481450.2:c.-23+32A>T (PSORS1C1)	ENSP00000447158.1:n.-23+32A>T
ENST00000547221.1:c.-102+32A>T (PSORS1C1)	ENSP00000449471.1:n.-102+32A>T
ENST00000550838.1:n.292A>T (PSORS1C1)
ENST00000552747.1:n.186A>T (PSORS1C1)