Canonical Allele Identifier: CA372881838

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558576-C-A
• MyVariant Identifiers: chr9:g.6558576C>A (hg19) ; chr9:g.6558576C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558576C>A , CM000671.2:g.6558576C>A	GRCh38
NC_000009.11:g.6558576C>A , CM000671.1:g.6558576C>A	GRCh37
NC_000009.10:g.6548576C>A	NCBI36
NG_016397.1:g.92117G>T , LRG_643:g.92117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2035G>T MANE Select	ENSP00000370737.4:p.Val679Phe
ENST00000460457.2:n.195G>T
ENST00000638233.1:n.470G>T
ENST00000638661.1:c.235G>T	ENSP00000491369.1:p.Val79Phe
ENST00000638694.1:n.222G>T
ENST00000639318.1:c.235G>T	ENSP00000491932.1:p.Val79Phe
ENST00000639364.1:n.1735G>T
ENST00000639443.1:n.1603G>T
ENST00000639954.1:n.1743G>T
ENST00000640208.1:c.235G>T	ENSP00000491895.1:p.Val79Phe
ENST00000640505.1:n.274G>T
ENST00000640592.1:n.1918G>T
ENST00000321612.6:c.2035G>T	ENSP00000370737.3:p.Val679Phe
ENST00000460457.1:n.174G>T
NM_000170.2:c.2035G>T , LRG_643t1:c.2035G>T	NP_000161.2:p.Val679Phe
NM_000170.3:c.2035G>T MANE Select	NP_000161.2:p.Val679Phe