Canonical Allele Identifier: CA2677932788
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31139438-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139438A>T , CM000668.2:g.31139438A>T GRCh38
NC_000006.11:g.31107215A>T , CM000668.1:g.31107215A>T GRCh37
NC_000006.10:g.31215194A>T NCBI36
NG_021348.1:g.29608A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-203A>T MANE Select ENSP00000259881.9:n.168-203A>T
ENST00000259881.9:c.168-203A>T ENSP00000259881.9:n.168-203A>T
ENST00000479581.5:n.62-203A>T
ENST00000481450.2:c.-22-203A>T ENSP00000447158.1:n.-22-203A>T
ENST00000547221.1:c.24-203A>T ENSP00000449471.1:n.24-203A>T
ENST00000552747.1:n.1133A>T
NM_014068.2:c.168-203A>T NP_054787.2:n.168-203A>T
NM_014068.3:c.168-203A>T MANE Select NP_054787.2:n.168-203A>T