Canonical Allele Identifier: CA2677930828
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31125801-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31125801C>T , CM000668.2:g.31125801C>T GRCh38
NC_000006.11:g.31093578C>T , CM000668.1:g.31093578C>T GRCh37
NC_000006.10:g.31201557C>T NCBI36
NG_021348.1:g.15971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.-103C>T MANE Select ENSP00000259881.9:n.-103C>T
ENST00000259881.9:c.-103C>T ENSP00000259881.9:n.-103C>T
ENST00000479581.5:n.61+10910C>T
ENST00000548049.1:n.242C>T
ENST00000550838.1:n.121C>T
ENST00000552747.1:n.53+10910C>T
NM_014068.2:c.-103C>T NP_054787.2:n.-103C>T
NM_014068.3:c.-103C>T MANE Select NP_054787.2:n.-103C>T