Canonical Allele Identifier: CA1054909531
Gene: CLRN1 HGNC NCBI

Linked Data

gnomAD v3: 3-150926292-T-G
gnomAD v4: 3-150926292-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.150926292T>G , CM000665.2:g.150926292T>G GRCh38
NC_000003.11:g.150644079T>G , CM000665.1:g.150644079T>G GRCh37
NC_000003.10:g.152126769T>G NCBI36
NG_009168.1:g.51708A>C , LRG_700:g.51708A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295911.6:c.*560A>C ENSP00000295911.2:n.*560A>C
ENST00000562308.5:c.104+15290A>C
ENST00000565169.1:c.162+15290A>C
ENST00000569170.5:c.162+15290A>C
NM_052995.2:c.*560A>C , LRG_700t2:c.*560A>C NP_443721.1:n.*560A>C
XR_924167.1:n.2655A>C
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