Canonical Allele Identifier: CA3708615

Gene: PSORS1C1 CDSN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31120464C>T , CM000668.2:g.31120464C>T	GRCh38
NC_000006.11:g.31088241C>T , CM000668.1:g.31088241C>T	GRCh37
NC_000006.10:g.31196220C>T	NCBI36
NG_012192.1:g.4983G>A
NG_021348.1:g.10634C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014068.3:c.-228-5212C>T (PSORS1C1) MANE Select	NP_054787.2:n.-228-5212C>T
ENST00000259881.10:c.-228-5212C>T (PSORS1C1) MANE Select	ENSP00000259881.9:n.-228-5212C>T
NM_001264.4:c.-45G>A (CDSN)	NP_001255.3:n.-45G>A
NM_014068.2:c.-228-5212C>T (PSORS1C1)	NP_054787.2:n.-228-5212C>T
ENST00000259881.9:c.-228-5212C>T (PSORS1C1)	ENSP00000259881.9:n.-228-5212C>T
ENST00000479581.5:n.61+5573C>T (PSORS1C1)
ENST00000548049.1:n.120-5215C>T (PSORS1C1)
ENST00000550838.1:n.59-5275C>T (PSORS1C1)
ENST00000552747.1:n.53+5573C>T (PSORS1C1)