Canonical Allele Identifier: CA566566423
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs1196591247
gnomAD v2: 6-38664673-T-G
gnomAD v3: 6-38696897-T-G
gnomAD v4: 6-38696897-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38696897T>G , CM000668.2:g.38696897T>G GRCh38
NC_000006.11:g.38664673T>G , CM000668.1:g.38664673T>G GRCh37
NC_000006.10:g.38772651T>G NCBI36
NG_012074.1:g.11280A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.84+6074A>C MANE Select ENSP00000362463.3:n.84+6074A>C
ENST00000373365.4:c.84+6074A>C ENSP00000362463.3:n.84+6074A>C
NM_006708.2:c.84+6074A>C NP_006699.2:n.84+6074A>C
NM_006708.3:c.84+6074A>C MANE Select NP_006699.2:n.84+6074A>C