Canonical Allele Identifier: CA2391346180
Gene: CSTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774645G= , CM000683.2:g.43774645G= GRCh38
NC_000021.8:g.45194526G= , CM000683.1:g.45194526G= GRCh37
NC_000021.7:g.44018954G= NCBI36
NG_011545.1:g.6734C= , LRG_485:g.6734C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.168+13C= MANE Select ENSP00000291568.6:n.168+13C=
ENST00000480147.3:n.1624C=
ENST00000639959.1:c.36-315C=
ENST00000640406.1:c.181C= ENSP00000492672.1:p.Pro61=
ENST00000675996.1:n.593+13C=
ENST00000291568.5:c.168+13C= ENSP00000291568.5:n.168+13C=
ENST00000480147.1:n.218C=
NM_000100.3:c.168+13C= , LRG_485t1:c.168+13C= NP_000091.1:n.168+13C=
NM_000100.4:c.168+13C= MANE Select NP_000091.1:n.168+13C=