Canonical Allele Identifier: CA2391346187
Gene: CSTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774655T= , CM000683.2:g.43774655T= GRCh38
NC_000021.8:g.45194536T= , CM000683.1:g.45194536T= GRCh37
NC_000021.7:g.44018964T= NCBI36
NG_011545.1:g.6724A= , LRG_485:g.6724A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.168+3A= MANE Select ENSP00000291568.6:n.168+3A=
ENST00000480147.3:n.1614A=
ENST00000639959.1:c.36-325A=
ENST00000640406.1:c.171A= ENSP00000492672.1:p.Val57=
ENST00000675996.1:n.593+3A=
ENST00000291568.5:c.168+3A= ENSP00000291568.5:n.168+3A=
ENST00000480147.1:n.208A=
NM_000100.3:c.168+3A= , LRG_485t1:c.168+3A= NP_000091.1:n.168+3A=
NM_000100.4:c.168+3A= MANE Select NP_000091.1:n.168+3A=