Canonical Allele Identifier: CA353688913
Gene: GBE1 HGNC NCBI

Linked Data

gnomAD v4: 3-81670885-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.81670885G>A , CM000665.2:g.81670885G>A GRCh38
NC_000003.11:g.81720036G>A , CM000665.1:g.81720036G>A GRCh37
NC_000003.10:g.81802726G>A NCBI36
NG_011810.1:g.95916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000429644.7:c.382C>T MANE Select ENSP00000410833.2:p.Pro128Ser
ENST00000429644.6:c.382C>T ENSP00000410833.2:p.Pro128Ser
ENST00000477426.1:n.98C>T
ENST00000489715.1:c.259C>T ENSP00000419638.1:p.Pro87Ser
NM_000158.3:c.382C>T NP_000149.3:p.Pro128Ser
NM_000158.4:c.382C>T MANE Select NP_000149.4:p.Pro128Ser