Canonical Allele Identifier: CA353687768
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1450879957
gnomAD v4: 3-81705520-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705520G>T , CM000665.2:g.81705520G>T GRCh38
NC_000003.11:g.81754671G>T , CM000665.1:g.81754671G>T GRCh37
NC_000003.10:g.81837361G>T NCBI36
NG_011810.1:g.61281C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.237C>A MANE Select ENSP00000410833.2:p.His79Gln
ENST00000429644.6:c.237C>A ENSP00000410833.2:p.His79Gln
ENST00000489715.1:c.114C>A ENSP00000419638.1:p.His38Gln
NM_000158.3:c.237C>A NP_000149.3:p.His79Gln
NM_000158.4:c.237C>A MANE Select NP_000149.4:p.His79Gln