Canonical Allele Identifier: CA410407597
Gene: CSTB HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45194088A>T (hg19) chr21:g.43774207A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774207A>T , CM000683.2:g.43774207A>T GRCh38
NC_000021.8:g.45194088A>T , CM000683.1:g.45194088A>T GRCh37
NC_000021.7:g.44018516A>T NCBI36
NG_011545.1:g.7172T>A , LRG_485:g.7172T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000291568.7:c.292T>A MANE Select ENSP00000291568.6:p.Phe98Ile
ENST00000480147.3:n.2062T>A
ENST00000639959.1:c.159T>A
ENST00000640406.1:c.*367T>A ENSP00000492672.1:n.*367T>A
ENST00000675996.1:n.717T>A
ENST00000291568.5:c.292T>A ENSP00000291568.5:p.Phe98Ile
ENST00000480147.1:n.656T>A
NM_000100.3:c.292T>A , LRG_485t1:c.292T>A NP_000091.1:p.Phe98Ile
NM_000100.4:c.292T>A MANE Select NP_000091.1:p.Phe98Ile
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