Canonical Allele Identifier: CA137549172
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs73414402
gnomAD v2: 6-38664627-G-A
gnomAD v3: 6-38696851-G-A
gnomAD v4: 6-38696851-G-A
MyVariant Identifiers: chr6:g.38664627G>A (hg19) chr6:g.38696851G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38696851G>A , CM000668.2:g.38696851G>A GRCh38
NC_000006.11:g.38664627G>A , CM000668.1:g.38664627G>A GRCh37
NC_000006.10:g.38772605G>A NCBI36
NG_012074.1:g.11326C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.84+6120C>T MANE Select ENSP00000362463.3:n.84+6120C>T
ENST00000373365.4:c.84+6120C>T ENSP00000362463.3:n.84+6120C>T
NM_006708.2:c.84+6120C>T NP_006699.2:n.84+6120C>T
NM_006708.3:c.84+6120C>T MANE Select NP_006699.2:n.84+6120C>T
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