Canonical Allele Identifier: CA1378730134
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1576184580
gnomAD v4: 3-81648758-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81648758C>T , CM000665.2:g.81648758C>T GRCh38
NC_000003.11:g.81697909C>T , CM000665.1:g.81697909C>T GRCh37
NC_000003.10:g.81780599C>T NCBI36
NG_011810.1:g.118043G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000429644.7:c.691+98G>A MANE Select ENSP00000410833.2:n.691+98G>A
ENST00000429644.6:c.691+98G>A ENSP00000410833.2:n.691+98G>A
ENST00000489715.1:c.568+98G>A ENSP00000419638.1:n.568+98G>A
ENST00000498468.1:n.219+98G>A
NM_000158.3:c.691+98G>A NP_000149.3:n.691+98G>A
NM_000158.4:c.691+98G>A MANE Select NP_000149.4:n.691+98G>A
Search 100 bp 5'
Search 100 bp 3'