Canonical Allele Identifier: CA2577825887
Gene: GBE1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648780C>T , CM000665.2:g.81648780C>T GRCh38
NC_000003.11:g.81697931C>T , CM000665.1:g.81697931C>T GRCh37
NC_000003.10:g.81780621C>T NCBI36
NG_011810.1:g.118021G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+76G>A MANE Select ENSP00000410833.2:n.691+76G>A
ENST00000429644.6:c.691+76G>A ENSP00000410833.2:n.691+76G>A
ENST00000489715.1:c.568+76G>A ENSP00000419638.1:n.568+76G>A
ENST00000498468.1:n.219+76G>A
NM_000158.3:c.691+76G>A NP_000149.3:n.691+76G>A
NM_000158.4:c.691+76G>A MANE Select NP_000149.4:n.691+76G>A
Search 100 bp 5'
Search 100 bp 3'