Canonical Allele Identifier: CA463585530
Gene: GLDC HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.6556207G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556207G>T , CM000671.2:g.6556207G>T GRCh38
NC_000009.11:g.6556207G>T , CM000671.1:g.6556207G>T GRCh37
NC_000009.10:g.6546207G>T NCBI36
NG_016397.1:g.94486C>A , LRG_643:g.94486C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321612.8:c.2148C>A MANE Select ENSP00000370737.4:p.Leu716=
ENST00000638233.1:n.583C>A
ENST00000638661.1:c.348C>A ENSP00000491369.1:p.Leu116=
ENST00000638694.1:n.335C>A
ENST00000639318.1:c.348C>A ENSP00000491932.1:p.Leu116=
ENST00000639364.1:n.1848C>A
ENST00000639443.1:n.1716C>A
ENST00000639954.1:n.1856C>A
ENST00000640505.1:n.387C>A
ENST00000321612.6:c.2148C>A ENSP00000370737.3:p.Leu716=
NM_000170.2:c.2148C>A , LRG_643t1:c.2148C>A NP_000161.2:p.Leu716=
NM_000170.3:c.2148C>A MANE Select NP_000161.2:p.Leu716=