Canonical Allele Identifier: CA824508743
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs1344020779
gnomAD v3: 6-38696738-A-G
gnomAD v4: 6-38696738-A-G
MyVariant Identifiers: chr6:g.38664514A>G (hg19) chr6:g.38696738A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38696738A>G , CM000668.2:g.38696738A>G GRCh38
NC_000006.11:g.38664514A>G , CM000668.1:g.38664514A>G GRCh37
NC_000006.10:g.38772492A>G NCBI36
NG_012074.1:g.11439T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373365.5:c.84+6233T>C MANE Select ENSP00000362463.3:n.84+6233T>C
ENST00000373365.4:c.84+6233T>C ENSP00000362463.3:n.84+6233T>C
NM_006708.2:c.84+6233T>C NP_006699.2:n.84+6233T>C
NM_006708.3:c.84+6233T>C MANE Select NP_006699.2:n.84+6233T>C
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