Canonical Allele Identifier: CA1378730136
Gene: GBE1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648762T= , CM000665.2:g.81648762T= GRCh38
NC_000003.11:g.81697913T= , CM000665.1:g.81697913T= GRCh37
NC_000003.10:g.81780603T= NCBI36
NG_011810.1:g.118039A=

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+94A= MANE Select ENSP00000410833.2:n.691+94A=
ENST00000429644.6:c.691+94A= ENSP00000410833.2:n.691+94A=
ENST00000489715.1:c.568+94A= ENSP00000419638.1:n.568+94A=
ENST00000498468.1:n.219+94A=
NM_000158.3:c.691+94A= NP_000149.3:n.691+94A=
NM_000158.4:c.691+94A= MANE Select NP_000149.4:n.691+94A=
Search 100 bp 5'
Search 100 bp 3'