Canonical Allele Identifier: CA372881336

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6556236C>T (hg19) ; chr9:g.6556236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556236C>T , CM000671.2:g.6556236C>T	GRCh38
NC_000009.11:g.6556236C>T , CM000671.1:g.6556236C>T	GRCh37
NC_000009.10:g.6546236C>T	NCBI36
NG_016397.1:g.94457G>A , LRG_643:g.94457G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2119G>A MANE Select	ENSP00000370737.4:p.Glu707Lys
ENST00000638233.1:n.554G>A
ENST00000638661.1:c.319G>A	ENSP00000491369.1:p.Glu107Lys
ENST00000638694.1:n.306G>A
ENST00000639318.1:c.319G>A	ENSP00000491932.1:p.Glu107Lys
ENST00000639364.1:n.1819G>A
ENST00000639443.1:n.1687G>A
ENST00000639954.1:n.1827G>A
ENST00000640505.1:n.358G>A
ENST00000321612.6:c.2119G>A	ENSP00000370737.3:p.Glu707Lys
NM_000170.2:c.2119G>A , LRG_643t1:c.2119G>A	NP_000161.2:p.Glu707Lys
NM_000170.3:c.2119G>A MANE Select	NP_000161.2:p.Glu707Lys