Canonical Allele Identifier: CA353688104
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81646441-A-C
MyVariant Identifiers: chr3:g.81695592A>C (hg19) chr3:g.81646441A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646441A>C , CM000665.2:g.81646441A>C GRCh38
NC_000003.11:g.81695592A>C , CM000665.1:g.81695592A>C GRCh37
NC_000003.10:g.81778282A>C NCBI36
NG_011810.1:g.120360T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.733T>G MANE Select ENSP00000410833.2:p.Tyr245Asp
ENST00000429644.6:c.733T>G ENSP00000410833.2:p.Tyr245Asp
ENST00000489715.1:c.610T>G ENSP00000419638.1:p.Tyr204Asp
ENST00000498468.1:n.283T>G
NM_000158.3:c.733T>G NP_000149.3:p.Tyr245Asp
NM_000158.4:c.733T>G MANE Select NP_000149.4:p.Tyr245Asp
Search 100 bp 5'
Search 100 bp 3'