Canonical Allele Identifier: CA137549341

Gene: GLO1

Linked Data

• dbSNP Id: rs182435552
• gnomAD v2: 6-38664773-C-A
• gnomAD v3: 6-38696997-C-A
• gnomAD v4: 6-38696997-C-A
• MyVariant Identifiers: chr6:g.38664773C>A (hg19) ; chr6:g.38696997C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38696997C>A , CM000668.2:g.38696997C>A	GRCh38
NC_000006.11:g.38664773C>A , CM000668.1:g.38664773C>A	GRCh37
NC_000006.10:g.38772751C>A	NCBI36
NG_012074.1:g.11180G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373365.5:c.84+5974G>T MANE Select	ENSP00000362463.3:n.84+5974G>T
ENST00000373365.4:c.84+5974G>T	ENSP00000362463.3:n.84+5974G>T
NM_006708.2:c.84+5974G>T	NP_006699.2:n.84+5974G>T
NM_006708.3:c.84+5974G>T MANE Select	NP_006699.2:n.84+5974G>T