Canonical Allele Identifier: CA512476050

Gene: CSTB

Linked Data

• MyVariant Identifiers: chr21:g.45196139C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43776258C>G , CM000683.2:g.43776258C>G	GRCh38
NC_000021.8:g.45196139C>G , CM000683.1:g.45196139C>G	GRCh37
NC_000021.7:g.44020567C>G	NCBI36
NG_011545.1:g.5121G>C , LRG_485:g.5121G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.12G>C MANE Select	ENSP00000291568.6:p.Gly4=
ENST00000480147.3:n.11G>C
ENST00000640406.1:c.12G>C	ENSP00000492672.1:p.Gly4=
ENST00000675996.1:n.73G>C
ENST00000291568.5:c.12G>C	ENSP00000291568.5:p.Gly4=
ENST00000480147.1:n.49G>C
NM_000100.3:c.12G>C , LRG_485t1:c.12G>C	NP_000091.1:p.Gly4=
NM_000100.4:c.12G>C MANE Select	NP_000091.1:p.Gly4=