Canonical Allele Identifier: CA410407609
Gene: CSTB HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45194091A>C (hg19) chr21:g.43774210A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774210A>C , CM000683.2:g.43774210A>C GRCh38
NC_000021.8:g.45194091A>C , CM000683.1:g.45194091A>C GRCh37
NC_000021.7:g.44018519A>C NCBI36
NG_011545.1:g.7169T>G , LRG_485:g.7169T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.289T>G MANE Select ENSP00000291568.6:p.Tyr97Asp
ENST00000480147.3:n.2059T>G
ENST00000639959.1:c.156T>G
ENST00000640406.1:c.*364T>G ENSP00000492672.1:n.*364T>G
ENST00000675996.1:n.714T>G
ENST00000291568.5:c.289T>G ENSP00000291568.5:p.Tyr97Asp
ENST00000480147.1:n.653T>G
NM_000100.3:c.289T>G , LRG_485t1:c.289T>G NP_000091.1:p.Tyr97Asp
NM_000100.4:c.289T>G MANE Select NP_000091.1:p.Tyr97Asp
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