Canonical Allele Identifier: CA353688931
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81670894-A-T
MyVariant Identifiers: chr3:g.81720045A>T (hg19) chr3:g.81670894A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670894A>T , CM000665.2:g.81670894A>T GRCh38
NC_000003.11:g.81720045A>T , CM000665.1:g.81720045A>T GRCh37
NC_000003.10:g.81802735A>T NCBI36
NG_011810.1:g.95907T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.373T>A MANE Select ENSP00000410833.2:p.Tyr125Asn
ENST00000429644.6:c.373T>A ENSP00000410833.2:p.Tyr125Asn
ENST00000477426.1:n.89T>A
ENST00000489715.1:c.250T>A ENSP00000419638.1:p.Tyr84Asn
NM_000158.3:c.373T>A NP_000149.3:p.Tyr125Asn
NM_000158.4:c.373T>A MANE Select NP_000149.4:p.Tyr125Asn
Search 100 bp 5'
Search 100 bp 3'