Canonical Allele Identifier: CA512474349
Gene: CSTB HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45194152T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774271T>C , CM000683.2:g.43774271T>C GRCh38
NC_000021.8:g.45194152T>C , CM000683.1:g.45194152T>C GRCh37
NC_000021.7:g.44018580T>C NCBI36
NG_011545.1:g.7108A>G , LRG_485:g.7108A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.228A>G MANE Select ENSP00000291568.6:p.Glu76=
ENST00000480147.3:n.1998A>G
ENST00000639959.1:c.95A>G
ENST00000640406.1:c.*303A>G ENSP00000492672.1:n.*303A>G
ENST00000675996.1:n.653A>G
ENST00000291568.5:c.228A>G ENSP00000291568.5:p.Glu76=
ENST00000480147.1:n.592A>G
NM_000100.3:c.228A>G , LRG_485t1:c.228A>G NP_000091.1:p.Glu76=
NM_000100.4:c.228A>G MANE Select NP_000091.1:p.Glu76=
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Search 100 bp 3'