Canonical Allele Identifier: CA2391345993

Gene: CSTB

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43774276G= , CM000683.2:g.43774276G=	GRCh38
NC_000021.8:g.45194157G= , CM000683.1:g.45194157G=	GRCh37
NC_000021.7:g.44018585G=	NCBI36
NG_011545.1:g.7103C= , LRG_485:g.7103C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000291568.7:c.223C= MANE Select	ENSP00000291568.6:p.His75=
ENST00000480147.3:n.1993C=
ENST00000639959.1:c.90C=
ENST00000640406.1:c.*298C=	ENSP00000492672.1:n.*298C=
ENST00000675996.1:n.648C=
ENST00000291568.5:c.223C=	ENSP00000291568.5:p.His75=
ENST00000480147.1:n.587C=
NM_000100.3:c.223C= , LRG_485t1:c.223C=	NP_000091.1:p.His75=
NM_000100.4:c.223C= MANE Select	NP_000091.1:p.His75=