Canonical Allele Identifier: CA544277700
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1415298900
gnomAD v2: 3-81695476-A-G
gnomAD v3: 3-81646325-A-G
gnomAD v4: 3-81646325-A-G
MyVariant Identifiers: chr3:g.81695476A>G (hg19) chr3:g.81646325A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646325A>G , CM000665.2:g.81646325A>G GRCh38
NC_000003.11:g.81695476A>G , CM000665.1:g.81695476A>G GRCh37
NC_000003.10:g.81778166A>G NCBI36
NG_011810.1:g.120476T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.782+67T>C MANE Select ENSP00000410833.2:n.782+67T>C
ENST00000429644.6:c.782+67T>C ENSP00000410833.2:n.782+67T>C
ENST00000489715.1:c.659+67T>C ENSP00000419638.1:n.659+67T>C
ENST00000498468.1:n.332+67T>C
NM_000158.3:c.782+67T>C NP_000149.3:n.782+67T>C
NM_000158.4:c.782+67T>C MANE Select NP_000149.4:n.782+67T>C
Search 100 bp 5'
Search 100 bp 3'