Canonical Allele Identifier: CA372881844

Gene: GLDC

Linked Data

• dbSNP Id: rs1817682953
• gnomAD v4: 9-6558579-C-T
• MyVariant Identifiers: chr9:g.6558579C>T (hg19) ; chr9:g.6558579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558579C>T , CM000671.2:g.6558579C>T	GRCh38
NC_000009.11:g.6558579C>T , CM000671.1:g.6558579C>T	GRCh37
NC_000009.10:g.6548579C>T	NCBI36
NG_016397.1:g.92114G>A , LRG_643:g.92114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2032G>A MANE Select	ENSP00000370737.4:p.Ala678Thr
ENST00000460457.2:n.192G>A
ENST00000638233.1:n.467G>A
ENST00000638661.1:c.232G>A	ENSP00000491369.1:p.Ala78Thr
ENST00000638694.1:n.219G>A
ENST00000639318.1:c.232G>A	ENSP00000491932.1:p.Ala78Thr
ENST00000639364.1:n.1732G>A
ENST00000639443.1:n.1600G>A
ENST00000639954.1:n.1740G>A
ENST00000640208.1:c.232G>A	ENSP00000491895.1:p.Ala78Thr
ENST00000640505.1:n.271G>A
ENST00000640592.1:n.1915G>A
ENST00000321612.6:c.2032G>A	ENSP00000370737.3:p.Ala678Thr
ENST00000460457.1:n.171G>A
NM_000170.2:c.2032G>A , LRG_643t1:c.2032G>A	NP_000161.2:p.Ala678Thr
NM_000170.3:c.2032G>A MANE Select	NP_000161.2:p.Ala678Thr