Canonical Allele Identifier: CA410407658

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45194104A>C (hg19) ; chr21:g.43774223A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774223A>C , CM000683.2:g.43774223A>C	GRCh38
NC_000021.8:g.45194104A>C , CM000683.1:g.45194104A>C	GRCh37
NC_000021.7:g.44018532A>C	NCBI36
NG_011545.1:g.7156T>G , LRG_485:g.7156T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.276T>G MANE Select	ENSP00000291568.6:p.His92Gln
ENST00000480147.3:n.2046T>G
ENST00000639959.1:c.143T>G
ENST00000640406.1:c.*351T>G	ENSP00000492672.1:n.*351T>G
ENST00000675996.1:n.701T>G
ENST00000291568.5:c.276T>G	ENSP00000291568.5:p.His92Gln
ENST00000480147.1:n.640T>G
NM_000100.3:c.276T>G , LRG_485t1:c.276T>G	NP_000091.1:p.His92Gln
NM_000100.4:c.276T>G MANE Select	NP_000091.1:p.His92Gln