Canonical Allele Identifier: CA372881251

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556198-T-A
• MyVariant Identifiers: chr9:g.6556198T>A (hg19) ; chr9:g.6556198T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556198T>A , CM000671.2:g.6556198T>A	GRCh38
NC_000009.11:g.6556198T>A , CM000671.1:g.6556198T>A	GRCh37
NC_000009.10:g.6546198T>A	NCBI36
NG_016397.1:g.94495A>T , LRG_643:g.94495A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2157A>T MANE Select	ENSP00000370737.4:p.Gln719His
ENST00000638233.1:n.592A>T
ENST00000638661.1:c.357A>T	ENSP00000491369.1:p.Gln119His
ENST00000638694.1:n.344A>T
ENST00000639318.1:c.357A>T	ENSP00000491932.1:p.Gln119His
ENST00000639364.1:n.1857A>T
ENST00000639443.1:n.1725A>T
ENST00000639954.1:n.1865A>T
ENST00000640505.1:n.396A>T
ENST00000321612.6:c.2157A>T	ENSP00000370737.3:p.Gln719His
NM_000170.2:c.2157A>T , LRG_643t1:c.2157A>T	NP_000161.2:p.Gln719His
NM_000170.3:c.2157A>T MANE Select	NP_000161.2:p.Gln719His