Canonical Allele Identifier: CA2677932717
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31139400-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139400A>T , CM000668.2:g.31139400A>T GRCh38
NC_000006.11:g.31107177A>T , CM000668.1:g.31107177A>T GRCh37
NC_000006.10:g.31215156A>T NCBI36
NG_021348.1:g.29570A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-241A>T MANE Select ENSP00000259881.9:n.168-241A>T
ENST00000259881.9:c.168-241A>T ENSP00000259881.9:n.168-241A>T
ENST00000479581.5:n.62-241A>T
ENST00000481450.2:c.-22-241A>T ENSP00000447158.1:n.-22-241A>T
ENST00000547221.1:c.24-241A>T ENSP00000449471.1:n.24-241A>T
ENST00000552747.1:n.1095A>T
NM_014068.2:c.168-241A>T NP_054787.2:n.168-241A>T
NM_014068.3:c.168-241A>T MANE Select NP_054787.2:n.168-241A>T