Canonical Allele Identifier: CA2677930785
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125776-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125776T>C , CM000668.2:g.31125776T>C GRCh38
NC_000006.11:g.31093553T>C , CM000668.1:g.31093553T>C GRCh37
NC_000006.10:g.31201532T>C NCBI36
NG_021348.1:g.15946T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-128T>C MANE Select ENSP00000259881.9:n.-128T>C
ENST00000259881.9:c.-128T>C ENSP00000259881.9:n.-128T>C
ENST00000479581.5:n.61+10885T>C
ENST00000548049.1:n.217T>C
ENST00000550838.1:n.96T>C
ENST00000552747.1:n.53+10885T>C
NM_014068.2:c.-128T>C NP_054787.2:n.-128T>C
NM_014068.3:c.-128T>C MANE Select NP_054787.2:n.-128T>C