Canonical Allele Identifier: CA2391345963
Gene: CSTB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774196T= , CM000683.2:g.43774196T= GRCh38
NC_000021.8:g.45194077T= , CM000683.1:g.45194077T= GRCh37
NC_000021.7:g.44018505T= NCBI36
NG_011545.1:g.7183A= , LRG_485:g.7183A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.*6A= MANE Select ENSP00000291568.6:n.*6A=
ENST00000480147.3:n.2073A=
ENST00000639959.1:c.170A=
ENST00000640406.1:c.*378A= ENSP00000492672.1:n.*378A=
ENST00000675996.1:n.728A=
ENST00000291568.5:c.*6A= ENSP00000291568.5:n.*6A=
ENST00000480147.1:n.667A=
NM_000100.3:c.*6A= , LRG_485t1:c.*6A= NP_000091.1:n.*6A=
NM_000100.4:c.*6A= MANE Select NP_000091.1:n.*6A=