Canonical Allele Identifier: CA2654756089
Gene: CSTB HGNC NCBI

Linked Data

gnomAD v4: 21-43776166-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43776166A>T , CM000683.2:g.43776166A>T GRCh38
NC_000021.8:g.45196047A>T , CM000683.1:g.45196047A>T GRCh37
NC_000021.7:g.44020475A>T NCBI36
NG_011545.1:g.5213T>A , LRG_485:g.5213T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.66+38T>A MANE Select ENSP00000291568.6:n.66+38T>A
ENST00000480147.3:n.103T>A
ENST00000639959.1:c.35+38T>A
ENST00000640406.1:c.66+38T>A ENSP00000492672.1:n.66+38T>A
ENST00000675996.1:n.165T>A
ENST00000291568.5:c.66+38T>A ENSP00000291568.5:n.66+38T>A
ENST00000480147.1:n.103+38T>A
NM_000100.3:c.66+38T>A , LRG_485t1:c.66+38T>A NP_000091.1:n.66+38T>A
NM_000100.4:c.66+38T>A MANE Select NP_000091.1:n.66+38T>A
Search 100 bp 5'
Search 100 bp 3'