Canonical Allele Identifier: CA353688173
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646470A>C , CM000665.2:g.81646470A>C GRCh38
NC_000003.11:g.81695621A>C , CM000665.1:g.81695621A>C GRCh37
NC_000003.10:g.81778311A>C NCBI36
NG_011810.1:g.120331T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.704T>G MANE Select ENSP00000410833.2:p.Ile235Ser
ENST00000429644.6:c.704T>G ENSP00000410833.2:p.Ile235Ser
ENST00000489715.1:c.581T>G ENSP00000419638.1:p.Ile194Ser
ENST00000498468.1:n.254T>G
NM_000158.3:c.704T>G NP_000149.3:p.Ile235Ser
NM_000158.4:c.704T>G MANE Select NP_000149.4:p.Ile235Ser