Canonical Allele Identifier: CA1088070050
Gene: GLO1 HGNC NCBI

Linked Data

gnomAD v3: 6-38696950-A-G
gnomAD v4: 6-38696950-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38696950A>G , CM000668.2:g.38696950A>G GRCh38
NC_000006.11:g.38664726A>G , CM000668.1:g.38664726A>G GRCh37
NC_000006.10:g.38772704A>G NCBI36
NG_012074.1:g.11227T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.84+6021T>C MANE Select ENSP00000362463.3:n.84+6021T>C
ENST00000373365.4:c.84+6021T>C ENSP00000362463.3:n.84+6021T>C
NM_006708.2:c.84+6021T>C NP_006699.2:n.84+6021T>C
NM_006708.3:c.84+6021T>C MANE Select NP_006699.2:n.84+6021T>C