Canonical Allele Identifier: CA372881412

Gene: GLDC

Linked Data

• gnomAD v4: 9-6556272-T-G
• MyVariant Identifiers: chr9:g.6556272T>G (hg19) ; chr9:g.6556272T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556272T>G , CM000671.2:g.6556272T>G	GRCh38
NC_000009.11:g.6556272T>G , CM000671.1:g.6556272T>G	GRCh37
NC_000009.10:g.6546272T>G	NCBI36
NG_016397.1:g.94421A>C , LRG_643:g.94421A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2083A>C MANE Select	ENSP00000370737.4:p.Ile695Leu
ENST00000638233.1:n.518A>C
ENST00000638661.1:c.283A>C	ENSP00000491369.1:p.Ile95Leu
ENST00000638694.1:n.270A>C
ENST00000639318.1:c.283A>C	ENSP00000491932.1:p.Ile95Leu
ENST00000639364.1:n.1783A>C
ENST00000639443.1:n.1651A>C
ENST00000639954.1:n.1791A>C
ENST00000640505.1:n.322A>C
ENST00000321612.6:c.2083A>C	ENSP00000370737.3:p.Ile695Leu
NM_000170.2:c.2083A>C , LRG_643t1:c.2083A>C	NP_000161.2:p.Ile695Leu
NM_000170.3:c.2083A>C MANE Select	NP_000161.2:p.Ile695Leu