Canonical Allele Identifier: CA137549418
Gene: GLO1 HGNC NCBI

Linked Data

dbSNP Id: rs986149590
gnomAD v2: 6-38664836-G-A
gnomAD v3: 6-38697060-G-A
gnomAD v4: 6-38697060-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38697060G>A , CM000668.2:g.38697060G>A GRCh38
NC_000006.11:g.38664836G>A , CM000668.1:g.38664836G>A GRCh37
NC_000006.10:g.38772814G>A NCBI36
NG_012074.1:g.11117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373365.5:c.84+5911C>T MANE Select ENSP00000362463.3:n.84+5911C>T
ENST00000373365.4:c.84+5911C>T ENSP00000362463.3:n.84+5911C>T
NM_006708.2:c.84+5911C>T NP_006699.2:n.84+5911C>T
NM_006708.3:c.84+5911C>T MANE Select NP_006699.2:n.84+5911C>T