Canonical Allele Identifier: CA321727796

Gene: CSTB

Linked Data

• dbSNP Id: rs955016013
• gnomAD v2: 21-45196047-A-G
• gnomAD v3: 21-43776166-A-G
• gnomAD v4: 21-43776166-A-G
• MyVariant Identifiers: chr21:g.45196047A>G (hg19) ; chr21:g.43776166A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43776166A>G , CM000683.2:g.43776166A>G	GRCh38
NC_000021.8:g.45196047A>G , CM000683.1:g.45196047A>G	GRCh37
NC_000021.7:g.44020475A>G	NCBI36
NG_011545.1:g.5213T>C , LRG_485:g.5213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.66+38T>C MANE Select	ENSP00000291568.6:n.66+38T>C
ENST00000480147.3:n.103T>C
ENST00000639959.1:c.35+38T>C
ENST00000640406.1:c.66+38T>C	ENSP00000492672.1:n.66+38T>C
ENST00000675996.1:n.165T>C
ENST00000291568.5:c.66+38T>C	ENSP00000291568.5:n.66+38T>C
ENST00000480147.1:n.103+38T>C
NM_000100.3:c.66+38T>C , LRG_485t1:c.66+38T>C	NP_000091.1:n.66+38T>C
NM_000100.4:c.66+38T>C MANE Select	NP_000091.1:n.66+38T>C