Canonical Allele Identifier: CA137549256
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs1012546981
gnomAD v2: 6-38664692-T-C
gnomAD v3: 6-38696916-T-C
gnomAD v4: 6-38696916-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38696916T>C , CM000668.2:g.38696916T>C GRCh38
NC_000006.11:g.38664692T>C , CM000668.1:g.38664692T>C GRCh37
NC_000006.10:g.38772670T>C NCBI36
NG_012074.1:g.11261A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.84+6055A>G MANE Select ENSP00000362463.3:n.84+6055A>G
ENST00000373365.4:c.84+6055A>G ENSP00000362463.3:n.84+6055A>G
NM_006708.2:c.84+6055A>G NP_006699.2:n.84+6055A>G
NM_006708.3:c.84+6055A>G MANE Select NP_006699.2:n.84+6055A>G