Canonical Allele Identifier: CA372876006

Gene: GLDC

Linked Data

• ClinVar Variation Id: 462875
• ClinVar RCV Id: RCV000537902 ; RCV003238766
• dbSNP Id: rs1554643360
• gnomAD v4: 9-6550845-G-A
• MyVariant Identifiers: chr9:g.6550845G>A (hg19) ; chr9:g.6550845G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6550845G>A , CM000671.2:g.6550845G>A	GRCh38
NC_000009.11:g.6550845G>A , CM000671.1:g.6550845G>A	GRCh37
NC_000009.10:g.6540845G>A	NCBI36
NG_016397.1:g.99848C>T , LRG_643:g.99848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2527C>T MANE Select	ENSP00000370737.4:p.Arg843Ter
ENST00000638233.1:n.962C>T
ENST00000638661.1:c.727C>T	ENSP00000491369.1:p.Arg243Ter
ENST00000638694.1:n.714C>T
ENST00000639318.1:c.727C>T	ENSP00000491932.1:p.Arg243Ter
ENST00000639364.1:n.2227C>T
ENST00000639443.1:n.2095C>T
ENST00000639639.1:c.229C>T	ENSP00000491312.1:p.Arg77Ter
ENST00000639954.1:n.2235C>T
ENST00000640505.1:n.766C>T
ENST00000321612.6:c.2527C>T	ENSP00000370737.3:p.Arg843Ter
NM_000170.2:c.2527C>T , LRG_643t1:c.2527C>T	NP_000161.2:p.Arg843Ter
NM_000170.3:c.2527C>T MANE Select	NP_000161.2:p.Arg843Ter