Canonical Allele Identifier: CA364348145
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs1446155248
gnomAD v2: 6-38650587-A-G
gnomAD v4: 6-38682811-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38682811A>G , CM000668.2:g.38682811A>G GRCh38
NC_000006.11:g.38650587A>G , CM000668.1:g.38650587A>G GRCh37
NC_000006.10:g.38758565A>G NCBI36
NG_012074.1:g.25366T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.373T>C MANE Select ENSP00000362463.3:p.Phe125Leu
ENST00000373365.4:c.373T>C ENSP00000362463.3:p.Phe125Leu
ENST00000470973.1:n.405T>C
NM_006708.2:c.373T>C NP_006699.2:p.Phe125Leu
NM_006708.3:c.373T>C MANE Select NP_006699.2:p.Phe125Leu