Canonical Allele Identifier: CA2677932732
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31139413-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139413A>C , CM000668.2:g.31139413A>C GRCh38
NC_000006.11:g.31107190A>C , CM000668.1:g.31107190A>C GRCh37
NC_000006.10:g.31215169A>C NCBI36
NG_021348.1:g.29583A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-228A>C MANE Select ENSP00000259881.9:n.168-228A>C
ENST00000259881.9:c.168-228A>C ENSP00000259881.9:n.168-228A>C
ENST00000479581.5:n.62-228A>C
ENST00000481450.2:c.-22-228A>C ENSP00000447158.1:n.-22-228A>C
ENST00000547221.1:c.24-228A>C ENSP00000449471.1:n.24-228A>C
ENST00000552747.1:n.1108A>C
NM_014068.2:c.168-228A>C NP_054787.2:n.168-228A>C
NM_014068.3:c.168-228A>C MANE Select NP_054787.2:n.168-228A>C
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