Canonical Allele Identifier: CA137714950
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs555961114
gnomAD v2: 6-38650762-C-A
gnomAD v3: 6-38682986-C-A
gnomAD v4: 6-38682986-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38682986C>A , CM000668.2:g.38682986C>A GRCh38
NC_000006.11:g.38650762C>A , CM000668.1:g.38650762C>A GRCh37
NC_000006.10:g.38758740C>A NCBI36
NG_012074.1:g.25191G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.309-111G>T MANE Select ENSP00000362463.3:n.309-111G>T
ENST00000373365.4:c.309-111G>T ENSP00000362463.3:n.309-111G>T
ENST00000470973.1:n.230G>T
NM_006708.2:c.309-111G>T NP_006699.2:n.309-111G>T
NM_006708.3:c.309-111G>T MANE Select NP_006699.2:n.309-111G>T