Canonical Allele Identifier: CA824508741
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs1220774826
gnomAD v3: 6-38696736-G-A
gnomAD v4: 6-38696736-G-A
MyVariant Identifiers: chr6:g.38664512G>A (hg19) chr6:g.38696736G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38696736G>A , CM000668.2:g.38696736G>A GRCh38
NC_000006.11:g.38664512G>A , CM000668.1:g.38664512G>A GRCh37
NC_000006.10:g.38772490G>A NCBI36
NG_012074.1:g.11441C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.84+6235C>T MANE Select ENSP00000362463.3:n.84+6235C>T
ENST00000373365.4:c.84+6235C>T ENSP00000362463.3:n.84+6235C>T
NM_006708.2:c.84+6235C>T NP_006699.2:n.84+6235C>T
NM_006708.3:c.84+6235C>T MANE Select NP_006699.2:n.84+6235C>T
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