Canonical Allele Identifier: CA1378679288
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1188156591
gnomAD v4: 3-81535394-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535394G>T , CM000665.2:g.81535394G>T GRCh38
NC_000003.11:g.81584545G>T , CM000665.1:g.81584545G>T GRCh37
NC_000003.10:g.81667235G>T NCBI36
NG_011810.1:g.231407C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-69C>A MANE Select ENSP00000410833.2:n.1804-69C>A
ENST00000429644.6:c.1804-69C>A ENSP00000410833.2:n.1804-69C>A
ENST00000484687.1:n.205-69C>A
ENST00000489715.1:c.1681-69C>A ENSP00000419638.1:n.1681-69C>A
NM_000158.3:c.1804-69C>A NP_000149.3:n.1804-69C>A
NM_000158.4:c.1804-69C>A MANE Select NP_000149.4:n.1804-69C>A
Search 100 bp 5'
Search 100 bp 3'