Canonical Allele Identifier: CA353688225
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81648862-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648862C>T , CM000665.2:g.81648862C>T GRCh38
NC_000003.11:g.81698013C>T , CM000665.1:g.81698013C>T GRCh37
NC_000003.10:g.81780703C>T NCBI36
NG_011810.1:g.117939G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.685G>A MANE Select ENSP00000410833.2:p.Gly229Ser
ENST00000429644.6:c.685G>A ENSP00000410833.2:p.Gly229Ser
ENST00000489715.1:c.562G>A ENSP00000419638.1:p.Gly188Ser
ENST00000498468.1:n.213G>A
NM_000158.3:c.685G>A NP_000149.3:p.Gly229Ser
NM_000158.4:c.685G>A MANE Select NP_000149.4:p.Gly229Ser