Canonical Allele Identifier: CA2391346000
Gene: CSTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774287T= , CM000683.2:g.43774287T= GRCh38
NC_000021.8:g.45194168T= , CM000683.1:g.45194168T= GRCh37
NC_000021.7:g.44018596T= NCBI36
NG_011545.1:g.7092A= , LRG_485:g.7092A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.212A= MANE Select ENSP00000291568.6:p.Gln71=
ENST00000480147.3:n.1982A=
ENST00000639959.1:c.79A=
ENST00000640406.1:c.*287A= ENSP00000492672.1:n.*287A=
ENST00000675996.1:n.637A=
ENST00000291568.5:c.212A= ENSP00000291568.5:p.Gln71=
ENST00000480147.1:n.576A=
NM_000100.3:c.212A= , LRG_485t1:c.212A= NP_000091.1:p.Gln71=
NM_000100.4:c.212A= MANE Select NP_000091.1:p.Gln71=