Canonical Allele Identifier: CA2654756090

Gene: CSTB

Linked Data

• gnomAD v4: 21-43776167-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43776167G>A , CM000683.2:g.43776167G>A	GRCh38
NC_000021.8:g.45196048G>A , CM000683.1:g.45196048G>A	GRCh37
NC_000021.7:g.44020476G>A	NCBI36
NG_011545.1:g.5212C>T , LRG_485:g.5212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.66+37C>T MANE Select	ENSP00000291568.6:n.66+37C>T
ENST00000480147.3:n.102C>T
ENST00000639959.1:c.35+37C>T
ENST00000640406.1:c.66+37C>T	ENSP00000492672.1:n.66+37C>T
ENST00000675996.1:n.164C>T
ENST00000291568.5:c.66+37C>T	ENSP00000291568.5:n.66+37C>T
ENST00000480147.1:n.103+37C>T
NM_000100.3:c.66+37C>T , LRG_485t1:c.66+37C>T	NP_000091.1:n.66+37C>T
NM_000100.4:c.66+37C>T MANE Select	NP_000091.1:n.66+37C>T