Canonical Allele Identifier: CA372881866

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6558591C>T (hg19) ; chr9:g.6558591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558591C>T , CM000671.2:g.6558591C>T	GRCh38
NC_000009.11:g.6558591C>T , CM000671.1:g.6558591C>T	GRCh37
NC_000009.10:g.6548591C>T	NCBI36
NG_016397.1:g.92102G>A , LRG_643:g.92102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2020G>A MANE Select	ENSP00000370737.4:p.Gly674Arg
ENST00000460457.2:n.180G>A
ENST00000638233.1:n.455G>A
ENST00000638661.1:c.220G>A	ENSP00000491369.1:p.Gly74Arg
ENST00000638694.1:n.207G>A
ENST00000639318.1:c.220G>A	ENSP00000491932.1:p.Gly74Arg
ENST00000639364.1:n.1720G>A
ENST00000639443.1:n.1588G>A
ENST00000639954.1:n.1728G>A
ENST00000640208.1:c.220G>A	ENSP00000491895.1:p.Gly74Arg
ENST00000640505.1:n.259G>A
ENST00000640592.1:n.1903G>A
ENST00000321612.6:c.2020G>A	ENSP00000370737.3:p.Gly674Arg
ENST00000460457.1:n.159G>A
NM_000170.2:c.2020G>A , LRG_643t1:c.2020G>A	NP_000161.2:p.Gly674Arg
NM_000170.3:c.2020G>A MANE Select	NP_000161.2:p.Gly674Arg