Canonical Allele Identifier: CA2677932821
Gene: PSORS1C1 HGNC NCBI

Linked Data

gnomAD v4: 6-31139452-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31139452C>G , CM000668.2:g.31139452C>G GRCh38
NC_000006.11:g.31107229C>G , CM000668.1:g.31107229C>G GRCh37
NC_000006.10:g.31215208C>G NCBI36
NG_021348.1:g.29622C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259881.10:c.168-189C>G MANE Select ENSP00000259881.9:n.168-189C>G
ENST00000259881.9:c.168-189C>G ENSP00000259881.9:n.168-189C>G
ENST00000479581.5:n.62-189C>G
ENST00000481450.2:c.-22-189C>G ENSP00000447158.1:n.-22-189C>G
ENST00000547221.1:c.24-189C>G ENSP00000449471.1:n.24-189C>G
NM_014068.2:c.168-189C>G NP_054787.2:n.168-189C>G
NM_014068.3:c.168-189C>G MANE Select NP_054787.2:n.168-189C>G
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