Canonical Allele Identifier: CA372894409

Gene: GLDC

Linked Data

• gnomAD v4: 9-6595116-G-T
• MyVariant Identifiers: chr9:g.6595116G>T (hg19) ; chr9:g.6595116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595116G>T , CM000671.2:g.6595116G>T	GRCh38
NC_000009.11:g.6595116G>T , CM000671.1:g.6595116G>T	GRCh37
NC_000009.10:g.6585116G>T	NCBI36
NG_016397.1:g.55577C>A , LRG_643:g.55577C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1159C>A MANE Select	ENSP00000370737.4:p.Leu387Ile
ENST00000638654.1:c.406C>A	ENSP00000491101.1:p.Leu136Ile
ENST00000639364.1:n.859C>A
ENST00000639443.1:n.727C>A
ENST00000639493.1:n.311C>A
ENST00000639954.1:n.867C>A
ENST00000640592.1:n.1042C>A
ENST00000321612.6:c.1159C>A	ENSP00000370737.3:p.Leu387Ile
ENST00000463305.1:n.243C>A
NM_000170.2:c.1159C>A , LRG_643t1:c.1159C>A	NP_000161.2:p.Leu387Ile
NM_000170.3:c.1159C>A MANE Select	NP_000161.2:p.Leu387Ile