Canonical Allele Identifier: CA2770499497

Gene: PSORS1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125729T>C , CM000668.2:g.31125729T>C	GRCh38
NC_000006.11:g.31093506T>C , CM000668.1:g.31093506T>C	GRCh37
NC_000006.10:g.31201485T>C	NCBI36
NG_021348.1:g.15899T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000259881.10:c.-175T>C MANE Select	ENSP00000259881.9:n.-175T>C
ENST00000259881.9:c.-175T>C	ENSP00000259881.9:n.-175T>C
ENST00000479581.5:n.61+10838T>C
ENST00000548049.1:n.170T>C
ENST00000550838.1:n.59-10T>C
ENST00000552747.1:n.53+10838T>C
NM_014068.2:c.-175T>C	NP_054787.2:n.-175T>C
NM_014068.3:c.-175T>C MANE Select	NP_054787.2:n.-175T>C