Canonical Allele Identifier: CA2711456868
Gene: PSORS1C1 HGNC NCBI

Linked Data

dbSNP Id: rs2150966296

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125688G>A , CM000668.2:g.31125688G>A GRCh38
NC_000006.11:g.31093465G>A , CM000668.1:g.31093465G>A GRCh37
NC_000006.10:g.31201444G>A NCBI36
NG_021348.1:g.15858G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-216G>A MANE Select ENSP00000259881.9:n.-216G>A
ENST00000259881.9:c.-216G>A ENSP00000259881.9:n.-216G>A
ENST00000479581.5:n.61+10797G>A
ENST00000548049.1:n.129G>A
ENST00000550838.1:n.59-51G>A
ENST00000552747.1:n.53+10797G>A
NM_014068.2:c.-216G>A NP_054787.2:n.-216G>A
NM_014068.3:c.-216G>A MANE Select NP_054787.2:n.-216G>A