Canonical Allele Identifier: CA78298514
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs775630334
gnomAD v4: 3-81705542-C-T
MyVariant Identifiers: chr3:g.81754693C>T (hg19) chr3:g.81705542C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705542C>T , CM000665.2:g.81705542C>T GRCh38
NC_000003.11:g.81754693C>T , CM000665.1:g.81754693C>T GRCh37
NC_000003.10:g.81837383C>T NCBI36
NG_011810.1:g.61259G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.215G>A MANE Select ENSP00000410833.2:p.Gly72Asp
ENST00000429644.6:c.215G>A ENSP00000410833.2:p.Gly72Asp
ENST00000489715.1:c.92G>A ENSP00000419638.1:p.Gly31Asp
NM_000158.3:c.215G>A NP_000149.3:p.Gly72Asp
NM_000158.4:c.215G>A MANE Select NP_000149.4:p.Gly72Asp
Search 100 bp 5'
Search 100 bp 3'