Canonical Allele Identifier: CA4980439

Gene: GLDC

Linked Data

• ClinVar Variation Id: 913713
• ClinVar RCV Id: RCV001167488 ; RCV003963106
• dbSNP Id: rs372604935
• ExAC: 9:6558583 G / A
• gnomAD v2: 9-6558583-G-A
• gnomAD v3: 9-6558583-G-A
• gnomAD v4: 9-6558583-G-A
• MyVariant Identifiers: chr9:g.6558583G>A (hg19) ; chr9:g.6558583G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558583G>A , CM000671.2:g.6558583G>A	GRCh38
NC_000009.11:g.6558583G>A , CM000671.1:g.6558583G>A	GRCh37
NC_000009.10:g.6548583G>A	NCBI36
NG_016397.1:g.92110C>T , LRG_643:g.92110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2028C>T MANE Select	ENSP00000370737.4:p.Ile676=
ENST00000460457.2:n.188C>T
ENST00000638233.1:n.463C>T
ENST00000638661.1:c.228C>T	ENSP00000491369.1:p.Ile76=
ENST00000638694.1:n.215C>T
ENST00000639318.1:c.228C>T	ENSP00000491932.1:p.Ile76=
ENST00000639364.1:n.1728C>T
ENST00000639443.1:n.1596C>T
ENST00000639954.1:n.1736C>T
ENST00000640208.1:c.228C>T	ENSP00000491895.1:p.Ile76=
ENST00000640505.1:n.267C>T
ENST00000640592.1:n.1911C>T
ENST00000321612.6:c.2028C>T	ENSP00000370737.3:p.Ile676=
ENST00000460457.1:n.167C>T
NM_000170.2:c.2028C>T , LRG_643t1:c.2028C>T	NP_000161.2:p.Ile676=
NM_000170.3:c.2028C>T MANE Select	NP_000161.2:p.Ile676=