Canonical Allele Identifier: CA2677930857
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125820-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125820T>A , CM000668.2:g.31125820T>A GRCh38
NC_000006.11:g.31093597T>A , CM000668.1:g.31093597T>A GRCh37
NC_000006.10:g.31201576T>A NCBI36
NG_021348.1:g.15990T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-84T>A MANE Select ENSP00000259881.9:n.-84T>A
ENST00000259881.9:c.-84T>A ENSP00000259881.9:n.-84T>A
ENST00000479581.5:n.61+10929T>A
ENST00000548049.1:n.261T>A
ENST00000550838.1:n.140T>A
ENST00000552747.1:n.53+10929T>A
NM_014068.2:c.-84T>A NP_054787.2:n.-84T>A
NM_014068.3:c.-84T>A MANE Select NP_054787.2:n.-84T>A