Canonical Allele Identifier: CA372881389

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556263-T-C
• COSMIC: COSM1462683
• MyVariant Identifiers: chr9:g.6556263T>C (hg19) ; chr9:g.6556263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556263T>C , CM000671.2:g.6556263T>C	GRCh38
NC_000009.11:g.6556263T>C , CM000671.1:g.6556263T>C	GRCh37
NC_000009.10:g.6546263T>C	NCBI36
NG_016397.1:g.94430A>G , LRG_643:g.94430A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2092A>G MANE Select	ENSP00000370737.4:p.Thr698Ala
ENST00000638233.1:n.527A>G
ENST00000638661.1:c.292A>G	ENSP00000491369.1:p.Thr98Ala
ENST00000638694.1:n.279A>G
ENST00000639318.1:c.292A>G	ENSP00000491932.1:p.Thr98Ala
ENST00000639364.1:n.1792A>G
ENST00000639443.1:n.1660A>G
ENST00000639954.1:n.1800A>G
ENST00000640505.1:n.331A>G
ENST00000321612.6:c.2092A>G	ENSP00000370737.3:p.Thr698Ala
NM_000170.2:c.2092A>G , LRG_643t1:c.2092A>G	NP_000161.2:p.Thr698Ala
NM_000170.3:c.2092A>G MANE Select	NP_000161.2:p.Thr698Ala