Canonical Allele Identifier: CA2666620870
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81535363-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81535363C>A , CM000665.2:g.81535363C>A GRCh38
NC_000003.11:g.81584514C>A , CM000665.1:g.81584514C>A GRCh37
NC_000003.10:g.81667204C>A NCBI36
NG_011810.1:g.231438G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.1804-38G>T MANE Select ENSP00000410833.2:n.1804-38G>T
ENST00000429644.6:c.1804-38G>T ENSP00000410833.2:n.1804-38G>T
ENST00000484687.1:n.205-38G>T
ENST00000489715.1:c.1681-38G>T ENSP00000419638.1:n.1681-38G>T
NM_000158.3:c.1804-38G>T NP_000149.3:n.1804-38G>T
NM_000158.4:c.1804-38G>T MANE Select NP_000149.4:n.1804-38G>T