Canonical Allele Identifier: CA4980398

Gene: GLDC

Linked Data

• dbSNP Id: rs761555221
• ExAC: 9:6556277 G / C
• gnomAD v2: 9-6556277-G-C
• MyVariant Identifiers: chr9:g.6556277G>C (hg19) ; chr9:g.6556277G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556277G>C , CM000671.2:g.6556277G>C	GRCh38
NC_000009.11:g.6556277G>C , CM000671.1:g.6556277G>C	GRCh37
NC_000009.10:g.6546277G>C	NCBI36
NG_016397.1:g.94416C>G , LRG_643:g.94416C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2078C>G MANE Select	ENSP00000370737.4:p.Ala693Gly
ENST00000638233.1:n.513C>G
ENST00000638661.1:c.278C>G	ENSP00000491369.1:p.Ala93Gly
ENST00000638694.1:n.265C>G
ENST00000639318.1:c.278C>G	ENSP00000491932.1:p.Ala93Gly
ENST00000639364.1:n.1778C>G
ENST00000639443.1:n.1646C>G
ENST00000639954.1:n.1786C>G
ENST00000640505.1:n.317C>G
ENST00000321612.6:c.2078C>G	ENSP00000370737.3:p.Ala693Gly
NM_000170.2:c.2078C>G , LRG_643t1:c.2078C>G	NP_000161.2:p.Ala693Gly
NM_000170.3:c.2078C>G MANE Select	NP_000161.2:p.Ala693Gly