Canonical Allele Identifier: CA353684551
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1168126093
gnomAD v2: 3-81627076-C-T
gnomAD v3: 3-81577925-C-T
gnomAD v4: 3-81577925-C-T
MyVariant Identifiers: chr3:g.81627076C>T (hg19) chr3:g.81577925C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81577925C>T , CM000665.2:g.81577925C>T GRCh38
NC_000003.11:g.81627076C>T , CM000665.1:g.81627076C>T GRCh37
NC_000003.10:g.81709766C>T NCBI36
NG_011810.1:g.188876G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1618G>A MANE Select ENSP00000410833.2:p.Gly540Ser
ENST00000429644.6:c.1618G>A ENSP00000410833.2:p.Gly540Ser
ENST00000484687.1:n.19G>A
ENST00000489715.1:c.1495G>A ENSP00000419638.1:p.Gly499Ser
NM_000158.3:c.1618G>A NP_000149.3:p.Gly540Ser
NM_000158.4:c.1618G>A MANE Select NP_000149.4:p.Gly540Ser
Search 100 bp 5'
Search 100 bp 3'