Canonical Allele Identifier: CA3787681
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs112857632
gnomAD v2: 6-38650585-G-A
gnomAD v3: 6-38682809-G-A
gnomAD v4: 6-38682809-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38682809G>A , CM000668.2:g.38682809G>A GRCh38
NC_000006.11:g.38650585G>A , CM000668.1:g.38650585G>A GRCh37
NC_000006.10:g.38758563G>A NCBI36
NG_012074.1:g.25368C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.375C>T MANE Select ENSP00000362463.3:p.Phe125=
ENST00000373365.4:c.375C>T ENSP00000362463.3:p.Phe125=
ENST00000470973.1:n.407C>T
NM_006708.2:c.375C>T NP_006699.2:p.Phe125=
NM_006708.3:c.375C>T MANE Select NP_006699.2:p.Phe125=