Canonical Allele Identifier: CA353688205
Gene: GBE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.81695635T>A (hg19) chr3:g.81646484T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646484T>A , CM000665.2:g.81646484T>A GRCh38
NC_000003.11:g.81695635T>A , CM000665.1:g.81695635T>A GRCh37
NC_000003.10:g.81778325T>A NCBI36
NG_011810.1:g.120317A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.692-2A>T MANE Select ENSP00000410833.2:n.692-2A>T
ENST00000429644.6:c.692-2A>T ENSP00000410833.2:n.692-2A>T
ENST00000489715.1:c.569-2A>T ENSP00000419638.1:n.569-2A>T
ENST00000498468.1:n.240A>T
NM_000158.3:c.692-2A>T NP_000149.3:n.692-2A>T
NM_000158.4:c.692-2A>T MANE Select NP_000149.4:n.692-2A>T
Search 100 bp 5'
Search 100 bp 3'