Canonical Allele Identifier: CA434496948
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81720069G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670918G>A , CM000665.2:g.81670918G>A GRCh38
NC_000003.11:g.81720069G>A , CM000665.1:g.81720069G>A GRCh37
NC_000003.10:g.81802759G>A NCBI36
NG_011810.1:g.95883C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.349C>T MANE Select ENSP00000410833.2:p.Leu117=
ENST00000429644.6:c.349C>T ENSP00000410833.2:p.Leu117=
ENST00000477426.1:n.65C>T
ENST00000489715.1:c.226C>T ENSP00000419638.1:p.Leu76=
NM_000158.3:c.349C>T NP_000149.3:p.Leu117=
NM_000158.4:c.349C>T MANE Select NP_000149.4:p.Leu117=