Canonical Allele Identifier: CA364348157
Gene: GLO1 HGNC NCBI

Linked Data

gnomAD v4: 6-38682819-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38682819G>T , CM000668.2:g.38682819G>T GRCh38
NC_000006.11:g.38650595G>T , CM000668.1:g.38650595G>T GRCh37
NC_000006.10:g.38758573G>T NCBI36
NG_012074.1:g.25358C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373365.5:c.365C>A MANE Select ENSP00000362463.3:p.Pro122His
ENST00000373365.4:c.365C>A ENSP00000362463.3:p.Pro122His
ENST00000470973.1:n.397C>A
NM_006708.2:c.365C>A NP_006699.2:p.Pro122His
NM_006708.3:c.365C>A MANE Select NP_006699.2:p.Pro122His