Canonical Allele Identifier: CA372881191

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2582640
• ClinVar RCV Id: RCV003333657
• MyVariant Identifiers: chr9:g.6556169G>T (hg19) ; chr9:g.6556169G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556169G>T , CM000671.2:g.6556169G>T	GRCh38
NC_000009.11:g.6556169G>T , CM000671.1:g.6556169G>T	GRCh37
NC_000009.10:g.6546169G>T	NCBI36
NG_016397.1:g.94524C>A , LRG_643:g.94524C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2186C>A MANE Select	ENSP00000370737.4:p.Ala729Glu
ENST00000638233.1:n.621C>A
ENST00000638661.1:c.386C>A	ENSP00000491369.1:p.Ala129Glu
ENST00000638694.1:n.373C>A
ENST00000639318.1:c.386C>A	ENSP00000491932.1:p.Ala129Glu
ENST00000639364.1:n.1886C>A
ENST00000639443.1:n.1754C>A
ENST00000639954.1:n.1894C>A
ENST00000640505.1:n.425C>A
ENST00000321612.6:c.2186C>A	ENSP00000370737.3:p.Ala729Glu
NM_000170.2:c.2186C>A , LRG_643t1:c.2186C>A	NP_000161.2:p.Ala729Glu
NM_000170.3:c.2186C>A MANE Select	NP_000161.2:p.Ala729Glu