Canonical Allele Identifier: CA4980432

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1504186
• ClinVar RCV Id: RCV002026006
• dbSNP Id: rs754531832
• ExAC: 9:6558572 T / C
• gnomAD v2: 9-6558572-T-C
• gnomAD v4: 9-6558572-T-C
• MyVariant Identifiers: chr9:g.6558572T>C (hg19) ; chr9:g.6558572T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558572T>C , CM000671.2:g.6558572T>C	GRCh38
NC_000009.11:g.6558572T>C , CM000671.1:g.6558572T>C	GRCh37
NC_000009.10:g.6548572T>C	NCBI36
NG_016397.1:g.92121A>G , LRG_643:g.92121A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2039A>G MANE Select	ENSP00000370737.4:p.His680Arg
ENST00000460457.2:n.199A>G
ENST00000638233.1:n.474A>G
ENST00000638661.1:c.239A>G	ENSP00000491369.1:p.His80Arg
ENST00000638694.1:n.226A>G
ENST00000639318.1:c.239A>G	ENSP00000491932.1:p.His80Arg
ENST00000639364.1:n.1739A>G
ENST00000639443.1:n.1607A>G
ENST00000639954.1:n.1747A>G
ENST00000640208.1:c.239A>G	ENSP00000491895.1:p.His80Arg
ENST00000640505.1:n.278A>G
ENST00000640592.1:n.1922A>G
ENST00000321612.6:c.2039A>G	ENSP00000370737.3:p.His680Arg
ENST00000460457.1:n.178A>G
NM_000170.2:c.2039A>G , LRG_643t1:c.2039A>G	NP_000161.2:p.His680Arg
NM_000170.3:c.2039A>G MANE Select	NP_000161.2:p.His680Arg