Canonical Allele Identifier: CA4980371

Gene: GLDC

Linked Data

• dbSNP Id: rs746722279
• ExAC: 9:6556205 A / G
• gnomAD v2: 9-6556205-A-G
• gnomAD v4: 9-6556205-A-G
• MyVariant Identifiers: chr9:g.6556205A>G (hg19) ; chr9:g.6556205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556205A>G , CM000671.2:g.6556205A>G	GRCh38
NC_000009.11:g.6556205A>G , CM000671.1:g.6556205A>G	GRCh37
NC_000009.10:g.6546205A>G	NCBI36
NG_016397.1:g.94488T>C , LRG_643:g.94488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2150T>C MANE Select	ENSP00000370737.4:p.Ile717Thr
ENST00000638233.1:n.585T>C
ENST00000638661.1:c.350T>C	ENSP00000491369.1:p.Ile117Thr
ENST00000638694.1:n.337T>C
ENST00000639318.1:c.350T>C	ENSP00000491932.1:p.Ile117Thr
ENST00000639364.1:n.1850T>C
ENST00000639443.1:n.1718T>C
ENST00000639954.1:n.1858T>C
ENST00000640505.1:n.389T>C
ENST00000321612.6:c.2150T>C	ENSP00000370737.3:p.Ile717Thr
NM_000170.2:c.2150T>C , LRG_643t1:c.2150T>C	NP_000161.2:p.Ile717Thr
NM_000170.3:c.2150T>C MANE Select	NP_000161.2:p.Ile717Thr