Canonical Allele Identifier: CA372881851

Gene: GLDC

Linked Data

• gnomAD v4: 9-6558585-T-A
• MyVariant Identifiers: chr9:g.6558585T>A (hg19) ; chr9:g.6558585T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558585T>A , CM000671.2:g.6558585T>A	GRCh38
NC_000009.11:g.6558585T>A , CM000671.1:g.6558585T>A	GRCh37
NC_000009.10:g.6548585T>A	NCBI36
NG_016397.1:g.92108A>T , LRG_643:g.92108A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2026A>T MANE Select	ENSP00000370737.4:p.Ile676Phe
ENST00000460457.2:n.186A>T
ENST00000638233.1:n.461A>T
ENST00000638661.1:c.226A>T	ENSP00000491369.1:p.Ile76Phe
ENST00000638694.1:n.213A>T
ENST00000639318.1:c.226A>T	ENSP00000491932.1:p.Ile76Phe
ENST00000639364.1:n.1726A>T
ENST00000639443.1:n.1594A>T
ENST00000639954.1:n.1734A>T
ENST00000640208.1:c.226A>T	ENSP00000491895.1:p.Ile76Phe
ENST00000640505.1:n.265A>T
ENST00000640592.1:n.1909A>T
ENST00000321612.6:c.2026A>T	ENSP00000370737.3:p.Ile676Phe
ENST00000460457.1:n.165A>T
NM_000170.2:c.2026A>T , LRG_643t1:c.2026A>T	NP_000161.2:p.Ile676Phe
NM_000170.3:c.2026A>T MANE Select	NP_000161.2:p.Ile676Phe