Canonical Allele Identifier: CA911028505
Gene: GBE1 HGNC NCBI

Linked Data

dbSNP Id: rs760080170
gnomAD v3: 3-81705639-A-T
gnomAD v4: 3-81705639-A-T
MyVariant Identifiers: chr3:g.81754790A>T (hg19) chr3:g.81705639A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81705639A>T , CM000665.2:g.81705639A>T GRCh38
NC_000003.11:g.81754790A>T , CM000665.1:g.81754790A>T GRCh37
NC_000003.10:g.81837480A>T NCBI36
NG_011810.1:g.61162T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.144-26T>A MANE Select ENSP00000410833.2:n.144-26T>A
ENST00000429644.6:c.144-26T>A ENSP00000410833.2:n.144-26T>A
ENST00000489715.1:c.21-26T>A ENSP00000419638.1:n.21-26T>A
NM_000158.3:c.144-26T>A NP_000149.3:n.144-26T>A
NM_000158.4:c.144-26T>A MANE Select NP_000149.4:n.144-26T>A
Search 100 bp 5'
Search 100 bp 3'