Canonical Allele Identifier: CA2770499481

Gene: PSORS1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125660G>C , CM000668.2:g.31125660G>C	GRCh38
NC_000006.11:g.31093437G>C , CM000668.1:g.31093437G>C	GRCh37
NC_000006.10:g.31201416G>C	NCBI36
NG_021348.1:g.15830G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-228-16G>C MANE Select	ENSP00000259881.9:n.-228-16G>C
ENST00000259881.9:c.-228-16G>C	ENSP00000259881.9:n.-228-16G>C
ENST00000479581.5:n.61+10769G>C
ENST00000548049.1:n.120-19G>C
ENST00000550838.1:n.59-79G>C
ENST00000552747.1:n.53+10769G>C
NM_014068.2:c.-228-16G>C	NP_054787.2:n.-228-16G>C
NM_014068.3:c.-228-16G>C MANE Select	NP_054787.2:n.-228-16G>C