Canonical Allele Identifier: CA4980436

Gene: GLDC

Linked Data

• dbSNP Id: rs758200296
• ExAC: 9:6558581 T / A
• gnomAD v2: 9-6558581-T-A
• gnomAD v4: 9-6558581-T-A
• MyVariant Identifiers: chr9:g.6558581T>A (hg19) ; chr9:g.6558581T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558581T>A , CM000671.2:g.6558581T>A	GRCh38
NC_000009.11:g.6558581T>A , CM000671.1:g.6558581T>A	GRCh37
NC_000009.10:g.6548581T>A	NCBI36
NG_016397.1:g.92112A>T , LRG_643:g.92112A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2030A>T MANE Select	ENSP00000370737.4:p.Asp677Val
ENST00000460457.2:n.190A>T
ENST00000638233.1:n.465A>T
ENST00000638661.1:c.230A>T	ENSP00000491369.1:p.Asp77Val
ENST00000638694.1:n.217A>T
ENST00000639318.1:c.230A>T	ENSP00000491932.1:p.Asp77Val
ENST00000639364.1:n.1730A>T
ENST00000639443.1:n.1598A>T
ENST00000639954.1:n.1738A>T
ENST00000640208.1:c.230A>T	ENSP00000491895.1:p.Asp77Val
ENST00000640505.1:n.269A>T
ENST00000640592.1:n.1913A>T
ENST00000321612.6:c.2030A>T	ENSP00000370737.3:p.Asp677Val
ENST00000460457.1:n.169A>T
NM_000170.2:c.2030A>T , LRG_643t1:c.2030A>T	NP_000161.2:p.Asp677Val
NM_000170.3:c.2030A>T MANE Select	NP_000161.2:p.Asp677Val