Canonical Allele Identifier: CA372875885

Gene: GLDC

Linked Data

• ClinVar Variation Id: 437461
• ClinVar RCV Id: RCV000499785
• dbSNP Id: rs1554643354
• MyVariant Identifiers: chr9:g.6550828G>C (hg19) ; chr9:g.6550828G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6550828G>C , CM000671.2:g.6550828G>C	GRCh38
NC_000009.11:g.6550828G>C , CM000671.1:g.6550828G>C	GRCh37
NC_000009.10:g.6540828G>C	NCBI36
NG_016397.1:g.99865C>G , LRG_643:g.99865C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2544C>G MANE Select	ENSP00000370737.4:p.Tyr848Ter
ENST00000638233.1:n.979C>G
ENST00000638661.1:c.744C>G	ENSP00000491369.1:p.Tyr248Ter
ENST00000638694.1:n.731C>G
ENST00000639318.1:c.744C>G	ENSP00000491932.1:p.Tyr248Ter
ENST00000639364.1:n.2244C>G
ENST00000639443.1:n.2112C>G
ENST00000639639.1:c.246C>G	ENSP00000491312.1:p.Tyr82Ter
ENST00000639954.1:n.2252C>G
ENST00000640505.1:n.783C>G
ENST00000321612.6:c.2544C>G	ENSP00000370737.3:p.Tyr848Ter
NM_000170.2:c.2544C>G , LRG_643t1:c.2544C>G	NP_000161.2:p.Tyr848Ter
NM_000170.3:c.2544C>G MANE Select	NP_000161.2:p.Tyr848Ter