Canonical Allele Identifier: CA463585534
Gene: GLDC HGNC NCBI

Linked Data

dbSNP Id: rs1817628356
MyVariant Identifiers: chr9:g.6556225G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556225G>A , CM000671.2:g.6556225G>A GRCh38
NC_000009.11:g.6556225G>A , CM000671.1:g.6556225G>A GRCh37
NC_000009.10:g.6546225G>A NCBI36
NG_016397.1:g.94468C>T , LRG_643:g.94468C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2130C>T MANE Select ENSP00000370737.4:p.Ile710=
ENST00000638233.1:n.565C>T
ENST00000638661.1:c.330C>T ENSP00000491369.1:p.Ile110=
ENST00000638694.1:n.317C>T
ENST00000639318.1:c.330C>T ENSP00000491932.1:p.Ile110=
ENST00000639364.1:n.1830C>T
ENST00000639443.1:n.1698C>T
ENST00000639954.1:n.1838C>T
ENST00000640505.1:n.369C>T
ENST00000321612.6:c.2130C>T ENSP00000370737.3:p.Ile710=
NM_000170.2:c.2130C>T , LRG_643t1:c.2130C>T NP_000161.2:p.Ile710=
NM_000170.3:c.2130C>T MANE Select NP_000161.2:p.Ile710=