Canonical Allele Identifier: CA372880419

Gene: GLDC

Linked Data

• dbSNP Id: rs1817585693
• gnomAD v3: 9-6554777-C-T
• gnomAD v4: 9-6554777-C-T
• MyVariant Identifiers: chr9:g.6554777C>T (hg19) ; chr9:g.6554777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6554777C>T , CM000671.2:g.6554777C>T	GRCh38
NC_000009.11:g.6554777C>T , CM000671.1:g.6554777C>T	GRCh37
NC_000009.10:g.6544777C>T	NCBI36
NG_016397.1:g.95916G>A , LRG_643:g.95916G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.2207G>A MANE Select	ENSP00000370737.4:p.Gly736Glu
ENST00000638233.1:n.642G>A
ENST00000638661.1:c.407G>A	ENSP00000491369.1:p.Gly136Glu
ENST00000638694.1:n.394G>A
ENST00000639318.1:c.407G>A	ENSP00000491932.1:p.Gly136Glu
ENST00000639364.1:n.1907G>A
ENST00000639443.1:n.1775G>A
ENST00000639639.1:c.-92G>A	ENSP00000491312.1:n.-92G>A
ENST00000639954.1:n.1915G>A
ENST00000640505.1:n.446G>A
ENST00000321612.6:c.2207G>A	ENSP00000370737.3:p.Gly736Glu
ENST00000467946.1:n.133G>A
NM_000170.2:c.2207G>A , LRG_643t1:c.2207G>A	NP_000161.2:p.Gly736Glu
NM_000170.3:c.2207G>A MANE Select	NP_000161.2:p.Gly736Glu