Canonical Allele Identifier: CA463585587

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558565-C-T
• MyVariant Identifiers: chr9:g.6558565C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558565C>T , CM000671.2:g.6558565C>T	GRCh38
NC_000009.11:g.6558565C>T , CM000671.1:g.6558565C>T	GRCh37
NC_000009.10:g.6548565C>T	NCBI36
NG_016397.1:g.92128G>A , LRG_643:g.92128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2046G>A MANE Select	ENSP00000370737.4:p.Lys682=
ENST00000460457.2:n.206G>A
ENST00000638233.1:n.481G>A
ENST00000638661.1:c.246G>A	ENSP00000491369.1:p.Lys82=
ENST00000638694.1:n.233G>A
ENST00000639318.1:c.246G>A	ENSP00000491932.1:p.Lys82=
ENST00000639364.1:n.1746G>A
ENST00000639443.1:n.1614G>A
ENST00000639954.1:n.1754G>A
ENST00000640208.1:c.246G>A	ENSP00000491895.1:p.Lys82=
ENST00000640505.1:n.285G>A
ENST00000640592.1:n.1929G>A
ENST00000321612.6:c.2046G>A	ENSP00000370737.3:p.Lys682=
ENST00000460457.1:n.185G>A
NM_000170.2:c.2046G>A , LRG_643t1:c.2046G>A	NP_000161.2:p.Lys682=
NM_000170.3:c.2046G>A MANE Select	NP_000161.2:p.Lys682=