Canonical Allele Identifier: CA2677930670
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125709-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125709G>T , CM000668.2:g.31125709G>T GRCh38
NC_000006.11:g.31093486G>T , CM000668.1:g.31093486G>T GRCh37
NC_000006.10:g.31201465G>T NCBI36
NG_021348.1:g.15879G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-195G>T MANE Select ENSP00000259881.9:n.-195G>T
ENST00000259881.9:c.-195G>T ENSP00000259881.9:n.-195G>T
ENST00000479581.5:n.61+10818G>T
ENST00000548049.1:n.150G>T
ENST00000550838.1:n.59-30G>T
ENST00000552747.1:n.53+10818G>T
NM_014068.2:c.-195G>T NP_054787.2:n.-195G>T
NM_014068.3:c.-195G>T MANE Select NP_054787.2:n.-195G>T