Canonical Allele Identifier: CA4981208

Gene: GLDC

Linked Data

• ClinVar Variation Id: 255457
• ClinVar RCV Id: RCV001610566 ; RCV000253432 ; RCV000401836
• dbSNP Id: rs138454333
• ExAC: 9:6644629 T / C
• gnomAD v2: 9-6644629-T-C
• gnomAD v3: 9-6644629-T-C
• gnomAD v4: 9-6644629-T-C
• MyVariant Identifiers: chr9:g.6644629T>C (hg19) ; chr9:g.6644629T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6644629T>C , CM000671.2:g.6644629T>C	GRCh38
NC_000009.11:g.6644629T>C , CM000671.1:g.6644629T>C	GRCh37
NC_000009.10:g.6634629T>C	NCBI36
NG_016397.1:g.6064A>G , LRG_643:g.6064A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.319A>G MANE Select	ENSP00000370737.4:p.Met107Val
ENST00000639954.1:n.163A>G
ENST00000640592.1:n.202A>G
ENST00000321612.6:c.319A>G	ENSP00000370737.3:p.Met107Val
NM_000170.2:c.319A>G , LRG_643t1:c.319A>G	NP_000161.2:p.Met107Val
XM_024447726.1:c.302+296T>C	XP_024303494.1:n.302+296T>C
NM_000170.3:c.319A>G MANE Select	NP_000161.2:p.Met107Val