Canonical Allele Identifier: CA566669753
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs1019257916
gnomAD v2: 6-38650736-G-T
gnomAD v3: 6-38682960-G-T
gnomAD v4: 6-38682960-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38682960G>T , CM000668.2:g.38682960G>T GRCh38
NC_000006.11:g.38650736G>T , CM000668.1:g.38650736G>T GRCh37
NC_000006.10:g.38758714G>T NCBI36
NG_012074.1:g.25217C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.309-85C>A MANE Select ENSP00000362463.3:n.309-85C>A
ENST00000373365.4:c.309-85C>A ENSP00000362463.3:n.309-85C>A
ENST00000470973.1:n.256C>A
NM_006708.2:c.309-85C>A NP_006699.2:n.309-85C>A
NM_006708.3:c.309-85C>A MANE Select NP_006699.2:n.309-85C>A