Canonical Allele Identifier: CA353687736
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81705507-C-G
MyVariant Identifiers: chr3:g.81754658C>G (hg19) chr3:g.81705507C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705507C>G , CM000665.2:g.81705507C>G GRCh38
NC_000003.11:g.81754658C>G , CM000665.1:g.81754658C>G GRCh37
NC_000003.10:g.81837348C>G NCBI36
NG_011810.1:g.61294G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.250G>C MANE Select ENSP00000410833.2:p.Gly84Arg
ENST00000429644.6:c.250G>C ENSP00000410833.2:p.Gly84Arg
ENST00000489715.1:c.127G>C ENSP00000419638.1:p.Gly43Arg
NM_000158.3:c.250G>C NP_000149.3:p.Gly84Arg
NM_000158.4:c.250G>C MANE Select NP_000149.4:p.Gly84Arg
Search 100 bp 5'
Search 100 bp 3'