Canonical Allele Identifier: CA353686177
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81535283-A-G
MyVariant Identifiers: chr3:g.81584434A>G (hg19) chr3:g.81535283A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535283A>G , CM000665.2:g.81535283A>G GRCh38
NC_000003.11:g.81584434A>G , CM000665.1:g.81584434A>G GRCh37
NC_000003.10:g.81667124A>G NCBI36
NG_011810.1:g.231518T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1846T>C MANE Select ENSP00000410833.2:p.Phe616Leu
ENST00000429644.6:c.1846T>C ENSP00000410833.2:p.Phe616Leu
ENST00000484687.1:n.247T>C
ENST00000489715.1:c.1723T>C ENSP00000419638.1:p.Phe575Leu
NM_000158.3:c.1846T>C NP_000149.3:p.Phe616Leu
NM_000158.4:c.1846T>C MANE Select NP_000149.4:p.Phe616Leu
Search 100 bp 5'
Search 100 bp 3'