Canonical Allele Identifier: CA372894206

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595017C>T (hg19) ; chr9:g.6595017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595017C>T , CM000671.2:g.6595017C>T	GRCh38
NC_000009.11:g.6595017C>T , CM000671.1:g.6595017C>T	GRCh37
NC_000009.10:g.6585017C>T	NCBI36
NG_016397.1:g.55676G>A , LRG_643:g.55676G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1258G>A MANE Select	ENSP00000370737.4:p.Glu420Lys
ENST00000639364.1:n.958G>A
ENST00000639443.1:n.826G>A
ENST00000639493.1:n.410G>A
ENST00000639954.1:n.966G>A
ENST00000640592.1:n.1141G>A
ENST00000321612.6:c.1258G>A	ENSP00000370737.3:p.Glu420Lys
ENST00000463305.1:n.342G>A
NM_000170.2:c.1258G>A , LRG_643t1:c.1258G>A	NP_000161.2:p.Glu420Lys
NM_000170.3:c.1258G>A MANE Select	NP_000161.2:p.Glu420Lys