Canonical Allele Identifier: CA353684703
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1369943617
gnomAD v2: 3-81627145-T-C
gnomAD v4: 3-81577994-T-C
MyVariant Identifiers: chr3:g.81627145T>C (hg19) chr3:g.81577994T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577994T>C , CM000665.2:g.81577994T>C GRCh38
NC_000003.11:g.81627145T>C , CM000665.1:g.81627145T>C GRCh37
NC_000003.10:g.81709835T>C NCBI36
NG_011810.1:g.188807A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1549A>G MANE Select ENSP00000410833.2:p.Ile517Val
ENST00000429644.6:c.1549A>G ENSP00000410833.2:p.Ile517Val
ENST00000489715.1:c.1426A>G ENSP00000419638.1:p.Ile476Val
NM_000158.3:c.1549A>G NP_000149.3:p.Ile517Val
NM_000158.4:c.1549A>G MANE Select NP_000149.4:p.Ile517Val
Search 100 bp 5'
Search 100 bp 3'