Canonical Allele Identifier: CA2499871
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs760519359
ExAC: 3:81695550 C / T
gnomAD v2: 3-81695550-C-T
gnomAD v4: 3-81646399-C-T
MyVariant Identifiers: chr3:g.81695550C>T (hg19) chr3:g.81646399C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646399C>T , CM000665.2:g.81646399C>T GRCh38
NC_000003.11:g.81695550C>T , CM000665.1:g.81695550C>T GRCh37
NC_000003.10:g.81778240C>T NCBI36
NG_011810.1:g.120402G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.775G>A MANE Select ENSP00000410833.2:p.Ala259Thr
ENST00000429644.6:c.775G>A ENSP00000410833.2:p.Ala259Thr
ENST00000489715.1:c.652G>A ENSP00000419638.1:p.Ala218Thr
ENST00000498468.1:n.325G>A
NM_000158.3:c.775G>A NP_000149.3:p.Ala259Thr
NM_000158.4:c.775G>A MANE Select NP_000149.4:p.Ala259Thr
Search 100 bp 5'
Search 100 bp 3'