Canonical Allele Identifier: CA512474230
Gene: CSTB HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45194119G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774238G>C , CM000683.2:g.43774238G>C GRCh38
NC_000021.8:g.45194119G>C , CM000683.1:g.45194119G>C GRCh37
NC_000021.7:g.44018547G>C NCBI36
NG_011545.1:g.7141C>G , LRG_485:g.7141C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000291568.7:c.261C>G MANE Select ENSP00000291568.6:p.Thr87=
ENST00000480147.3:n.2031C>G
ENST00000639959.1:c.128C>G
ENST00000640406.1:c.*336C>G ENSP00000492672.1:n.*336C>G
ENST00000675996.1:n.686C>G
ENST00000291568.5:c.261C>G ENSP00000291568.5:p.Thr87=
ENST00000480147.1:n.625C>G
NM_000100.3:c.261C>G , LRG_485t1:c.261C>G NP_000091.1:p.Thr87=
NM_000100.4:c.261C>G MANE Select NP_000091.1:p.Thr87=
Search 100 bp 5'
Search 100 bp 3'