Canonical Allele Identifier: CA353687724
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81754651A>T (hg19) chr3:g.81705500A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705500A>T , CM000665.2:g.81705500A>T GRCh38
NC_000003.11:g.81754651A>T , CM000665.1:g.81754651A>T GRCh37
NC_000003.10:g.81837341A>T NCBI36
NG_011810.1:g.61301T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.257T>A MANE Select ENSP00000410833.2:p.Leu86Ter
ENST00000429644.6:c.257T>A ENSP00000410833.2:p.Leu86Ter
ENST00000489715.1:c.134T>A ENSP00000419638.1:p.Leu45Ter
NM_000158.3:c.257T>A NP_000149.3:p.Leu86Ter
NM_000158.4:c.257T>A MANE Select NP_000149.4:p.Leu86Ter
Search 100 bp 5'
Search 100 bp 3'