Canonical Allele Identifier: CA2654754376
Gene: CSTB HGNC NCBI

Linked Data

gnomAD v4: 21-43774129-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774129C>G , CM000683.2:g.43774129C>G GRCh38
NC_000021.8:g.45194010C>G , CM000683.1:g.45194010C>G GRCh37
NC_000021.7:g.44018438C>G NCBI36
NG_011545.1:g.7250G>C , LRG_485:g.7250G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.*73G>C MANE Select ENSP00000291568.6:n.*73G>C
ENST00000480147.3:n.2140G>C
ENST00000639959.1:c.237G>C
ENST00000640406.1:c.*445G>C ENSP00000492672.1:n.*445G>C
ENST00000675996.1:n.795G>C
ENST00000291568.5:c.*73G>C ENSP00000291568.5:n.*73G>C
NM_000100.3:c.*73G>C , LRG_485t1:c.*73G>C NP_000091.1:n.*73G>C
NM_000100.4:c.*73G>C MANE Select NP_000091.1:n.*73G>C
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