Canonical Allele Identifier: CA910983150
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs1485863525
MyVariant Identifiers: chr3:g.81584627G>T (hg19) chr3:g.81535476G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535476G>T , CM000665.2:g.81535476G>T GRCh38
NC_000003.11:g.81584627G>T , CM000665.1:g.81584627G>T GRCh37
NC_000003.10:g.81667317G>T NCBI36
NG_011810.1:g.231325C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-151C>A MANE Select ENSP00000410833.2:n.1804-151C>A
ENST00000429644.6:c.1804-151C>A ENSP00000410833.2:n.1804-151C>A
ENST00000484687.1:n.205-151C>A
ENST00000489715.1:c.1681-151C>A ENSP00000419638.1:n.1681-151C>A
NM_000158.3:c.1804-151C>A NP_000149.3:n.1804-151C>A
NM_000158.4:c.1804-151C>A MANE Select NP_000149.4:n.1804-151C>A
Search 100 bp 5'
Search 100 bp 3'