Canonical Allele Identifier: CA434493946
Gene: GBE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2417551
ClinVar RCV Id: RCV003115020
dbSNP Id: rs1704763653
MyVariant Identifiers: chr3:g.81695551T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646400T>G , CM000665.2:g.81646400T>G GRCh38
NC_000003.11:g.81695551T>G , CM000665.1:g.81695551T>G GRCh37
NC_000003.10:g.81778241T>G NCBI36
NG_011810.1:g.120401A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.774A>C MANE Select ENSP00000410833.2:p.Ala258=
ENST00000429644.6:c.774A>C ENSP00000410833.2:p.Ala258=
ENST00000489715.1:c.651A>C ENSP00000419638.1:p.Ala217=
ENST00000498468.1:n.324A>C
NM_000158.3:c.774A>C NP_000149.3:p.Ala258=
NM_000158.4:c.774A>C MANE Select NP_000149.4:p.Ala258=
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Search 100 bp 3'