Canonical Allele Identifier: CA434494312
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81584435A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535284A>G , CM000665.2:g.81535284A>G GRCh38
NC_000003.11:g.81584435A>G , CM000665.1:g.81584435A>G GRCh37
NC_000003.10:g.81667125A>G NCBI36
NG_011810.1:g.231517T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1845T>C MANE Select ENSP00000410833.2:p.Ala615=
ENST00000429644.6:c.1845T>C ENSP00000410833.2:p.Ala615=
ENST00000484687.1:n.246T>C
ENST00000489715.1:c.1722T>C ENSP00000419638.1:p.Ala574=
NM_000158.3:c.1845T>C NP_000149.3:p.Ala615=
NM_000158.4:c.1845T>C MANE Select NP_000149.4:p.Ala615=