Canonical Allele Identifier: CA2391346184
Gene: CSTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774652C= , CM000683.2:g.43774652C= GRCh38
NC_000021.8:g.45194533C= , CM000683.1:g.45194533C= GRCh37
NC_000021.7:g.44018961C= NCBI36
NG_011545.1:g.6727G= , LRG_485:g.6727G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.168+6G= MANE Select ENSP00000291568.6:n.168+6G=
ENST00000480147.3:n.1617G=
ENST00000639959.1:c.36-322G=
ENST00000640406.1:c.174G= ENSP00000492672.1:p.Glu58=
ENST00000675996.1:n.593+6G=
ENST00000291568.5:c.168+6G= ENSP00000291568.5:n.168+6G=
ENST00000480147.1:n.211G=
NM_000100.3:c.168+6G= , LRG_485t1:c.168+6G= NP_000091.1:n.168+6G=
NM_000100.4:c.168+6G= MANE Select NP_000091.1:n.168+6G=