Canonical Allele Identifier: CA410407832
Gene: CSTB HGNC NCBI

Linked Data

gnomAD v4: 21-43774266-T-C
MyVariant Identifiers: chr21:g.45194147T>C (hg19) chr21:g.43774266T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774266T>C , CM000683.2:g.43774266T>C GRCh38
NC_000021.8:g.45194147T>C , CM000683.1:g.45194147T>C GRCh37
NC_000021.7:g.44018575T>C NCBI36
NG_011545.1:g.7113A>G , LRG_485:g.7113A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.233A>G MANE Select ENSP00000291568.6:p.Lys78Arg
ENST00000480147.3:n.2003A>G
ENST00000639959.1:c.100A>G
ENST00000640406.1:c.*308A>G ENSP00000492672.1:n.*308A>G
ENST00000675996.1:n.658A>G
ENST00000291568.5:c.233A>G ENSP00000291568.5:p.Lys78Arg
ENST00000480147.1:n.597A>G
NM_000100.3:c.233A>G , LRG_485t1:c.233A>G NP_000091.1:p.Lys78Arg
NM_000100.4:c.233A>G MANE Select NP_000091.1:p.Lys78Arg
Search 100 bp 5'
Search 100 bp 3'