Canonical Allele Identifier: CA372878566

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2113989
• ClinVar RCV Id: RCV003042562
• MyVariant Identifiers: chr9:g.6553441C>G (hg19) ; chr9:g.6553441C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6553441C>G , CM000671.2:g.6553441C>G	GRCh38
NC_000009.11:g.6553441C>G , CM000671.1:g.6553441C>G	GRCh37
NC_000009.10:g.6543441C>G	NCBI36
NG_016397.1:g.97252G>C , LRG_643:g.97252G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2384G>C MANE Select	ENSP00000370737.4:p.Cys795Ser
ENST00000638233.1:n.819G>C
ENST00000638661.1:c.584G>C	ENSP00000491369.1:p.Cys195Ser
ENST00000638694.1:n.571G>C
ENST00000639318.1:c.584G>C	ENSP00000491932.1:p.Cys195Ser
ENST00000639364.1:n.2084G>C
ENST00000639443.1:n.1952G>C
ENST00000639639.1:c.86G>C	ENSP00000491312.1:p.Cys29Ser
ENST00000639954.1:n.2092G>C
ENST00000640505.1:n.623G>C
ENST00000321612.6:c.2384G>C	ENSP00000370737.3:p.Cys795Ser
ENST00000467946.1:n.310G>C
NM_000170.2:c.2384G>C , LRG_643t1:c.2384G>C	NP_000161.2:p.Cys795Ser
NM_000170.3:c.2384G>C MANE Select	NP_000161.2:p.Cys795Ser