Canonical Allele Identifier: CA2666623997
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs2107066618
gnomAD v4: 3-81646645-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646645T>G , CM000665.2:g.81646645T>G GRCh38
NC_000003.11:g.81695796T>G , CM000665.1:g.81695796T>G GRCh37
NC_000003.10:g.81778486T>G NCBI36
NG_011810.1:g.120156A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.692-163A>C MANE Select ENSP00000410833.2:n.692-163A>C
ENST00000429644.6:c.692-163A>C ENSP00000410833.2:n.692-163A>C
ENST00000489715.1:c.569-163A>C ENSP00000419638.1:n.569-163A>C
ENST00000498468.1:n.220-141A>C
NM_000158.3:c.692-163A>C NP_000149.3:n.692-163A>C
NM_000158.4:c.692-163A>C MANE Select NP_000149.4:n.692-163A>C
Search 100 bp 5'
Search 100 bp 3'