Canonical Allele Identifier: CA463597551

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2757698
• ClinVar RCV Id: RCV003511903
• MyVariant Identifiers: chr9:g.6595113A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6595113A>G , CM000671.2:g.6595113A>G	GRCh38
NC_000009.11:g.6595113A>G , CM000671.1:g.6595113A>G	GRCh37
NC_000009.10:g.6585113A>G	NCBI36
NG_016397.1:g.55580T>C , LRG_643:g.55580T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321612.8:c.1162T>C MANE Select	ENSP00000370737.4:p.Leu388=
ENST00000638654.1:c.409T>C	ENSP00000491101.1:p.Leu137=
ENST00000639364.1:n.862T>C
ENST00000639443.1:n.730T>C
ENST00000639493.1:n.314T>C
ENST00000639954.1:n.870T>C
ENST00000640592.1:n.1045T>C
ENST00000321612.6:c.1162T>C	ENSP00000370737.3:p.Leu388=
ENST00000463305.1:n.246T>C
NM_000170.2:c.1162T>C , LRG_643t1:c.1162T>C	NP_000161.2:p.Leu388=
NM_000170.3:c.1162T>C MANE Select	NP_000161.2:p.Leu388=