Canonical Allele Identifier: CA372894360

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595092A>T (hg19) ; chr9:g.6595092A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595092A>T , CM000671.2:g.6595092A>T	GRCh38
NC_000009.11:g.6595092A>T , CM000671.1:g.6595092A>T	GRCh37
NC_000009.10:g.6585092A>T	NCBI36
NG_016397.1:g.55601T>A , LRG_643:g.55601T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1183T>A MANE Select	ENSP00000370737.4:p.Phe395Ile
ENST00000638654.1:c.430T>A	ENSP00000491101.1:p.Phe144Ile
ENST00000639364.1:n.883T>A
ENST00000639443.1:n.751T>A
ENST00000639493.1:n.335T>A
ENST00000639954.1:n.891T>A
ENST00000640592.1:n.1066T>A
ENST00000321612.6:c.1183T>A	ENSP00000370737.3:p.Phe395Ile
ENST00000463305.1:n.267T>A
NM_000170.2:c.1183T>A , LRG_643t1:c.1183T>A	NP_000161.2:p.Phe395Ile
NM_000170.3:c.1183T>A MANE Select	NP_000161.2:p.Phe395Ile