Canonical Allele Identifier: CA372881165

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1954102
• ClinVar RCV Id: RCV002714950
• MyVariant Identifiers: chr9:g.6556158C>A (hg19) ; chr9:g.6556158C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556158C>A , CM000671.2:g.6556158C>A	GRCh38
NC_000009.11:g.6556158C>A , CM000671.1:g.6556158C>A	GRCh37
NC_000009.10:g.6546158C>A	NCBI36
NG_016397.1:g.94535G>T , LRG_643:g.94535G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2197G>T MANE Select	ENSP00000370737.4:p.Ala733Ser
ENST00000638233.1:n.632G>T
ENST00000638661.1:c.397G>T	ENSP00000491369.1:p.Ala133Ser
ENST00000638694.1:n.384G>T
ENST00000639318.1:c.397G>T	ENSP00000491932.1:p.Ala133Ser
ENST00000639364.1:n.1897G>T
ENST00000639443.1:n.1765G>T
ENST00000639954.1:n.1905G>T
ENST00000640505.1:n.436G>T
ENST00000321612.6:c.2197G>T	ENSP00000370737.3:p.Ala733Ser
NM_000170.2:c.2197G>T , LRG_643t1:c.2197G>T	NP_000161.2:p.Ala733Ser
NM_000170.3:c.2197G>T MANE Select	NP_000161.2:p.Ala733Ser