Canonical Allele Identifier: CA2678586696
Gene: GLO1 HGNC NCBI

Linked Data

gnomAD v4: 6-38682764-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38682764A>G , CM000668.2:g.38682764A>G GRCh38
NC_000006.11:g.38650540A>G , CM000668.1:g.38650540A>G GRCh37
NC_000006.10:g.38758518A>G NCBI36
NG_012074.1:g.25413T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.376+44T>C MANE Select ENSP00000362463.3:n.376+44T>C
ENST00000373365.4:c.376+44T>C ENSP00000362463.3:n.376+44T>C
ENST00000470973.1:n.408+44T>C
NM_006708.2:c.376+44T>C NP_006699.2:n.376+44T>C
NM_006708.3:c.376+44T>C MANE Select NP_006699.2:n.376+44T>C
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