Canonical Allele Identifier: CA4980804

Gene: GLDC

Linked Data

• dbSNP Id: rs781450542
• ExAC: 9:6595065 G / C
• gnomAD v2: 9-6595065-G-C
• gnomAD v4: 9-6595065-G-C
• MyVariant Identifiers: chr9:g.6595065G>C (hg19) ; chr9:g.6595065G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595065G>C , CM000671.2:g.6595065G>C	GRCh38
NC_000009.11:g.6595065G>C , CM000671.1:g.6595065G>C	GRCh37
NC_000009.10:g.6585065G>C	NCBI36
NG_016397.1:g.55628C>G , LRG_643:g.55628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1210C>G MANE Select	ENSP00000370737.4:p.Leu404Val
ENST00000638654.1:c.457C>G	ENSP00000491101.1:p.Leu153Val
ENST00000639364.1:n.910C>G
ENST00000639443.1:n.778C>G
ENST00000639493.1:n.362C>G
ENST00000639954.1:n.918C>G
ENST00000640592.1:n.1093C>G
ENST00000321612.6:c.1210C>G	ENSP00000370737.3:p.Leu404Val
ENST00000463305.1:n.294C>G
NM_000170.2:c.1210C>G , LRG_643t1:c.1210C>G	NP_000161.2:p.Leu404Val
NM_000170.3:c.1210C>G MANE Select	NP_000161.2:p.Leu404Val