Canonical Allele Identifier: CA4979981

Gene: GLDC

Linked Data

• ClinVar Variation Id: 367171
• ClinVar RCV Id: RCV000391827 ; RCV001311339 ; RCV002524602 ; RCV003950304
• dbSNP Id: rs138640017
• ExAC: 9:6533092 C / G
• gnomAD v2: 9-6533092-C-G
• gnomAD v3: 9-6533092-C-G
• gnomAD v4: 9-6533092-C-G
• MyVariant Identifiers: chr9:g.6533092C>G (hg19) ; chr9:g.6533092C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6533092C>G , CM000671.2:g.6533092C>G	GRCh38
NC_000009.11:g.6533092C>G , CM000671.1:g.6533092C>G	GRCh37
NC_000009.10:g.6523092C>G	NCBI36
NG_016397.1:g.117601G>C , LRG_643:g.117601G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2988G>C MANE Select	ENSP00000370737.4:p.Gln996His
ENST00000638233.1:n.1423G>C
ENST00000638274.1:c.253G>C
ENST00000638661.1:c.1188G>C	ENSP00000491369.1:p.Gln396His
ENST00000638694.1:n.1175G>C
ENST00000639318.1:c.1092G>C	ENSP00000491932.1:p.Gln364His
ENST00000639364.1:n.2688G>C
ENST00000639443.1:n.2556G>C
ENST00000639461.1:n.2089G>C
ENST00000639639.1:c.690G>C	ENSP00000491312.1:p.Gln230His
ENST00000639954.1:n.2696G>C
ENST00000640505.1:n.1227G>C
ENST00000321612.6:c.2988G>C	ENSP00000370737.3:p.Gln996His
ENST00000477960.1:n.569G>C
NM_000170.2:c.2988G>C , LRG_643t1:c.2988G>C	NP_000161.2:p.Gln996His
NM_000170.3:c.2988G>C MANE Select	NP_000161.2:p.Gln996His