Canonical Allele Identifier: CA2654754371
Gene: CSTB HGNC NCBI

Linked Data

gnomAD v4: 21-43774107-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774107G>C , CM000683.2:g.43774107G>C GRCh38
NC_000021.8:g.45193988G>C , CM000683.1:g.45193988G>C GRCh37
NC_000021.7:g.44018416G>C NCBI36
NG_011545.1:g.7272C>G , LRG_485:g.7272C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.*95C>G MANE Select ENSP00000291568.6:n.*95C>G
ENST00000480147.3:n.2162C>G
ENST00000639959.1:c.259C>G
ENST00000640406.1:c.*467C>G ENSP00000492672.1:n.*467C>G
ENST00000675996.1:n.817C>G
ENST00000291568.5:c.*95C>G ENSP00000291568.5:n.*95C>G
NM_000100.3:c.*95C>G , LRG_485t1:c.*95C>G NP_000091.1:n.*95C>G
NM_000100.4:c.*95C>G MANE Select NP_000091.1:n.*95C>G
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