Canonical Allele Identifier: CA372884314

Gene: GLDC

Linked Data

• gnomAD v4: 9-6565358-C-T
• MyVariant Identifiers: chr9:g.6565358C>T (hg19) ; chr9:g.6565358C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6565358C>T , CM000671.2:g.6565358C>T	GRCh38
NC_000009.11:g.6565358C>T , CM000671.1:g.6565358C>T	GRCh37
NC_000009.10:g.6555358C>T	NCBI36
NG_016397.1:g.85335G>A , LRG_643:g.85335G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1922G>A MANE Select	ENSP00000370737.4:p.Arg641Lys
ENST00000460457.2:n.82G>A
ENST00000638233.1:n.357G>A
ENST00000638661.1:c.122G>A	ENSP00000491369.1:p.Arg41Lys
ENST00000638694.1:n.109G>A
ENST00000639318.1:c.122G>A	ENSP00000491932.1:p.Arg41Lys
ENST00000639364.1:n.1622G>A
ENST00000639443.1:n.1490G>A
ENST00000639954.1:n.1630G>A
ENST00000640208.1:c.122G>A	ENSP00000491895.1:p.Arg41Lys
ENST00000640505.1:n.161G>A
ENST00000640592.1:n.1805G>A
ENST00000321612.6:c.1922G>A	ENSP00000370737.3:p.Arg641Lys
ENST00000460457.1:n.61G>A
NM_000170.2:c.1922G>A , LRG_643t1:c.1922G>A	NP_000161.2:p.Arg641Lys
NM_000170.3:c.1922G>A MANE Select	NP_000161.2:p.Arg641Lys