Canonical Allele Identifier: CA353688050
Gene: GBE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81646419T>A , CM000665.2:g.81646419T>A GRCh38
NC_000003.11:g.81695570T>A , CM000665.1:g.81695570T>A GRCh37
NC_000003.10:g.81778260T>A NCBI36
NG_011810.1:g.120382A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.755A>T MANE Select ENSP00000410833.2:p.Gln252Leu
ENST00000429644.6:c.755A>T ENSP00000410833.2:p.Gln252Leu
ENST00000489715.1:c.632A>T ENSP00000419638.1:p.Gln211Leu
ENST00000498468.1:n.305A>T
NM_000158.3:c.755A>T NP_000149.3:p.Gln252Leu
NM_000158.4:c.755A>T MANE Select NP_000149.4:p.Gln252Leu