Canonical Allele Identifier: CA512474442
Gene: CSTB HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.45194176T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774295T>G , CM000683.2:g.43774295T>G GRCh38
NC_000021.8:g.45194176T>G , CM000683.1:g.45194176T>G GRCh37
NC_000021.7:g.44018604T>G NCBI36
NG_011545.1:g.7084A>C , LRG_485:g.7084A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000291568.7:c.204A>C MANE Select ENSP00000291568.6:p.Arg68=
ENST00000480147.3:n.1974A>C
ENST00000639959.1:c.71A>C
ENST00000640406.1:c.*279A>C ENSP00000492672.1:n.*279A>C
ENST00000675996.1:n.629A>C
ENST00000291568.5:c.204A>C ENSP00000291568.5:p.Arg68=
ENST00000480147.1:n.568A>C
NM_000100.3:c.204A>C , LRG_485t1:c.204A>C NP_000091.1:p.Arg68=
NM_000100.4:c.204A>C MANE Select NP_000091.1:p.Arg68=
Search 100 bp 5'
Search 100 bp 3'