Canonical Allele Identifier: CA1120884570

Gene: GLDC

Linked Data

• dbSNP Id: rs1817683581
• gnomAD v3: 9-6558590-C-CCAT
• gnomAD v4: 9-6558590-C-CCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558591_6558593dup , CM000671.2:g.6558591_6558593dup	GRCh38
NC_000009.11:g.6558591_6558593dup , CM000671.1:g.6558591_6558593dup	GRCh37
NC_000009.10:g.6548591_6548593dup	NCBI36
NG_016397.1:g.92100_92102dup , LRG_643:g.92100_92102dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2018_2020dup MANE Select	ENSP00000370737.4:p.Tyr673_Gly674insAsp
ENST00000460457.2:n.178_180dup
ENST00000638233.1:n.453_455dup
ENST00000638661.1:c.218_220dup	ENSP00000491369.1:p.Tyr73_Gly74insAsp
ENST00000638694.1:n.205_207dup
ENST00000639318.1:c.218_220dup	ENSP00000491932.1:p.Tyr73_Gly74insAsp
ENST00000639364.1:n.1718_1720dup
ENST00000639443.1:n.1586_1588dup
ENST00000639954.1:n.1726_1728dup
ENST00000640208.1:c.218_220dup	ENSP00000491895.1:p.Tyr73_Gly74insAsp
ENST00000640505.1:n.257_259dup
ENST00000640592.1:n.1901_1903dup
ENST00000321612.6:c.2018_2020dup	ENSP00000370737.3:p.Tyr673_Gly674insAsp
ENST00000460457.1:n.157_159dup
NM_000170.2:c.2018_2020dup , LRG_643t1:c.2018_2020dup	NP_000161.2:p.Tyr673_Gly674insAsp
NM_000170.3:c.2018_2020dup MANE Select	NP_000161.2:p.Tyr673_Gly674insAsp