Canonical Allele Identifier: CA188651592

Gene: GLDC

Linked Data

• dbSNP Id: rs761693858
• gnomAD v4: 9-6558584-A-G
• MyVariant Identifiers: chr9:g.6558584A>G (hg19) ; chr9:g.6558584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558584A>G , CM000671.2:g.6558584A>G	GRCh38
NC_000009.11:g.6558584A>G , CM000671.1:g.6558584A>G	GRCh37
NC_000009.10:g.6548584A>G	NCBI36
NG_016397.1:g.92109T>C , LRG_643:g.92109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2027T>C MANE Select	ENSP00000370737.4:p.Ile676Thr
ENST00000460457.2:n.187T>C
ENST00000638233.1:n.462T>C
ENST00000638661.1:c.227T>C	ENSP00000491369.1:p.Ile76Thr
ENST00000638694.1:n.214T>C
ENST00000639318.1:c.227T>C	ENSP00000491932.1:p.Ile76Thr
ENST00000639364.1:n.1727T>C
ENST00000639443.1:n.1595T>C
ENST00000639954.1:n.1735T>C
ENST00000640208.1:c.227T>C	ENSP00000491895.1:p.Ile76Thr
ENST00000640505.1:n.266T>C
ENST00000640592.1:n.1910T>C
ENST00000321612.6:c.2027T>C	ENSP00000370737.3:p.Ile676Thr
ENST00000460457.1:n.166T>C
NM_000170.2:c.2027T>C , LRG_643t1:c.2027T>C	NP_000161.2:p.Ile676Thr
NM_000170.3:c.2027T>C MANE Select	NP_000161.2:p.Ile676Thr