Canonical Allele Identifier: CA566669718

Gene: GLO1

Linked Data

• dbSNP Id: rs1378036207
• gnomAD v2: 6-38650537-A-C
• gnomAD v3: 6-38682761-A-C
• gnomAD v4: 6-38682761-A-C
• MyVariant Identifiers: chr6:g.38650537A>C (hg19) ; chr6:g.38682761A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38682761A>C , CM000668.2:g.38682761A>C	GRCh38
NC_000006.11:g.38650537A>C , CM000668.1:g.38650537A>C	GRCh37
NC_000006.10:g.38758515A>C	NCBI36
NG_012074.1:g.25416T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373365.5:c.376+47T>G MANE Select	ENSP00000362463.3:n.376+47T>G
ENST00000373365.4:c.376+47T>G	ENSP00000362463.3:n.376+47T>G
ENST00000470973.1:n.408+47T>G
NM_006708.2:c.376+47T>G	NP_006699.2:n.376+47T>G
NM_006708.3:c.376+47T>G MANE Select	NP_006699.2:n.376+47T>G