Canonical Allele Identifier: CA353687816
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs775630334
gnomAD v2: 3-81754693-C-A
gnomAD v3: 3-81705542-C-A
gnomAD v4: 3-81705542-C-A
MyVariant Identifiers: chr3:g.81754693C>A (hg19) chr3:g.81705542C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.215G>T MANE Select ENSP00000410833.2:p.Gly72Val
ENST00000429644.6:c.215G>T ENSP00000410833.2:p.Gly72Val
ENST00000489715.1:c.92G>T ENSP00000419638.1:p.Gly31Val
NM_000158.3:c.215G>T NP_000149.3:p.Gly72Val
NM_000158.4:c.215G>T MANE Select NP_000149.4:p.Gly72Val
Search 100 bp 5'
Search 100 bp 3'