Canonical Allele Identifier: CA1088064278
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs1761406249
gnomAD v3: 6-38683068-G-A
gnomAD v4: 6-38683068-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38683068G>A , CM000668.2:g.38683068G>A GRCh38
NC_000006.11:g.38650844G>A , CM000668.1:g.38650844G>A GRCh37
NC_000006.10:g.38758822G>A NCBI36
NG_012074.1:g.25109C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.309-193C>T MANE Select ENSP00000362463.3:n.309-193C>T
ENST00000373365.4:c.309-193C>T ENSP00000362463.3:n.309-193C>T
ENST00000470973.1:n.148C>T
NM_006708.2:c.309-193C>T NP_006699.2:n.309-193C>T
NM_006708.3:c.309-193C>T MANE Select NP_006699.2:n.309-193C>T
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