Canonical Allele Identifier: CA566669761
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs1335198779
gnomAD v2: 6-38650776-C-T
gnomAD v3: 6-38683000-C-T
gnomAD v4: 6-38683000-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38683000C>T , CM000668.2:g.38683000C>T GRCh38
NC_000006.11:g.38650776C>T , CM000668.1:g.38650776C>T GRCh37
NC_000006.10:g.38758754C>T NCBI36
NG_012074.1:g.25177G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.309-125G>A MANE Select ENSP00000362463.3:n.309-125G>A
ENST00000373365.4:c.309-125G>A ENSP00000362463.3:n.309-125G>A
ENST00000470973.1:n.216G>A
NM_006708.2:c.309-125G>A NP_006699.2:n.309-125G>A
NM_006708.3:c.309-125G>A MANE Select NP_006699.2:n.309-125G>A