Canonical Allele Identifier: CA353688046
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1505846
ClinVar RCV Id: RCV001999618
dbSNP Id: rs2107065942
MyVariant Identifiers: chr3:g.81695568T>C (hg19) chr3:g.81646417T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646417T>C , CM000665.2:g.81646417T>C GRCh38
NC_000003.11:g.81695568T>C , CM000665.1:g.81695568T>C GRCh37
NC_000003.10:g.81778258T>C NCBI36
NG_011810.1:g.120384A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.757A>G MANE Select ENSP00000410833.2:p.Ile253Val
ENST00000429644.6:c.757A>G ENSP00000410833.2:p.Ile253Val
ENST00000489715.1:c.634A>G ENSP00000419638.1:p.Ile212Val
ENST00000498468.1:n.307A>G
NM_000158.3:c.757A>G NP_000149.3:p.Ile253Val
NM_000158.4:c.757A>G MANE Select NP_000149.4:p.Ile253Val
Search 100 bp 5'
Search 100 bp 3'