Canonical Allele Identifier: CA372894216

Gene: GLDC

Linked Data

• MyVariant Identifiers: chr9:g.6595022A>T (hg19) ; chr9:g.6595022A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595022A>T , CM000671.2:g.6595022A>T	GRCh38
NC_000009.11:g.6595022A>T , CM000671.1:g.6595022A>T	GRCh37
NC_000009.10:g.6585022A>T	NCBI36
NG_016397.1:g.55671T>A , LRG_643:g.55671T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1253T>A MANE Select	ENSP00000370737.4:p.Leu418Ter
ENST00000639364.1:n.953T>A
ENST00000639443.1:n.821T>A
ENST00000639493.1:n.405T>A
ENST00000639954.1:n.961T>A
ENST00000640592.1:n.1136T>A
ENST00000321612.6:c.1253T>A	ENSP00000370737.3:p.Leu418Ter
ENST00000463305.1:n.337T>A
NM_000170.2:c.1253T>A , LRG_643t1:c.1253T>A	NP_000161.2:p.Leu418Ter
NM_000170.3:c.1253T>A MANE Select	NP_000161.2:p.Leu418Ter