Canonical Allele Identifier: CA372894411

Gene: GLDC

Linked Data

• gnomAD v4: 9-6595118-G-T
• MyVariant Identifiers: chr9:g.6595118G>T (hg19) ; chr9:g.6595118G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595118G>T , CM000671.2:g.6595118G>T	GRCh38
NC_000009.11:g.6595118G>T , CM000671.1:g.6595118G>T	GRCh37
NC_000009.10:g.6585118G>T	NCBI36
NG_016397.1:g.55575C>A , LRG_643:g.55575C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1157C>A MANE Select	ENSP00000370737.4:p.Ala386Asp
ENST00000638654.1:c.404C>A	ENSP00000491101.1:p.Ala135Asp
ENST00000639364.1:n.857C>A
ENST00000639443.1:n.725C>A
ENST00000639493.1:n.309C>A
ENST00000639954.1:n.865C>A
ENST00000640592.1:n.1040C>A
ENST00000321612.6:c.1157C>A	ENSP00000370737.3:p.Ala386Asp
ENST00000463305.1:n.241C>A
NM_000170.2:c.1157C>A , LRG_643t1:c.1157C>A	NP_000161.2:p.Ala386Asp
NM_000170.3:c.1157C>A MANE Select	NP_000161.2:p.Ala386Asp