Canonical Allele Identifier: CA2577617675
Gene: CSTB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774637C>T , CM000683.2:g.43774637C>T GRCh38
NC_000021.8:g.45194518C>T , CM000683.1:g.45194518C>T GRCh37
NC_000021.7:g.44018946C>T NCBI36
NG_011545.1:g.6742G>A , LRG_485:g.6742G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291568.7:c.168+21G>A MANE Select ENSP00000291568.6:n.168+21G>A
ENST00000480147.3:n.1632G>A
ENST00000639959.1:c.36-307G>A
ENST00000640406.1:c.189G>A ENSP00000492672.1:p.Glu63=
ENST00000675996.1:n.593+21G>A
ENST00000291568.5:c.168+21G>A ENSP00000291568.5:n.168+21G>A
ENST00000480147.1:n.226G>A
NM_000100.3:c.168+21G>A , LRG_485t1:c.168+21G>A NP_000091.1:n.168+21G>A
NM_000100.4:c.168+21G>A MANE Select NP_000091.1:n.168+21G>A
Search 100 bp 5'
Search 100 bp 3'