Canonical Allele Identifier: CA434492454
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81627158A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81578007A>C , CM000665.2:g.81578007A>C GRCh38
NC_000003.11:g.81627158A>C , CM000665.1:g.81627158A>C GRCh37
NC_000003.10:g.81709848A>C NCBI36
NG_011810.1:g.188794T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.1536T>G MANE Select ENSP00000410833.2:p.Val512=
ENST00000429644.6:c.1536T>G ENSP00000410833.2:p.Val512=
ENST00000489715.1:c.1413T>G ENSP00000419638.1:p.Val471=
NM_000158.3:c.1536T>G NP_000149.3:p.Val512=
NM_000158.4:c.1536T>G MANE Select NP_000149.4:p.Val512=