Canonical Allele Identifier: CA2500030
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 794403
ClinVar RCV Id: RCV000977655
dbSNP Id: rs375359843
ExAC: 3:81754677 G / A
gnomAD v2: 3-81754677-G-A
gnomAD v3: 3-81705526-G-A
gnomAD v4: 3-81705526-G-A
COSMIC: COSM3380709 COSM3380710
MyVariant Identifiers: chr3:g.81754677G>A (hg19) chr3:g.81705526G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705526G>A , CM000665.2:g.81705526G>A GRCh38
NC_000003.11:g.81754677G>A , CM000665.1:g.81754677G>A GRCh37
NC_000003.10:g.81837367G>A NCBI36
NG_011810.1:g.61275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.231C>T MANE Select ENSP00000410833.2:p.Gly77=
ENST00000429644.6:c.231C>T ENSP00000410833.2:p.Gly77=
ENST00000489715.1:c.108C>T ENSP00000419638.1:p.Gly36=
NM_000158.3:c.231C>T NP_000149.3:p.Gly77=
NM_000158.4:c.231C>T MANE Select NP_000149.4:p.Gly77=
Search 100 bp 5'
Search 100 bp 3'