Canonical Allele Identifier: CA372881404

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1435150
• ClinVar RCV Id: RCV001972126
• dbSNP Id: rs371447782
• MyVariant Identifiers: chr9:g.6556269T>A (hg19) ; chr9:g.6556269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6556269T>A , CM000671.2:g.6556269T>A	GRCh38
NC_000009.11:g.6556269T>A , CM000671.1:g.6556269T>A	GRCh37
NC_000009.10:g.6546269T>A	NCBI36
NG_016397.1:g.94424A>T , LRG_643:g.94424A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2086A>T MANE Select	ENSP00000370737.4:p.Met696Leu
ENST00000638233.1:n.521A>T
ENST00000638661.1:c.286A>T	ENSP00000491369.1:p.Met96Leu
ENST00000638694.1:n.273A>T
ENST00000639318.1:c.286A>T	ENSP00000491932.1:p.Met96Leu
ENST00000639364.1:n.1786A>T
ENST00000639443.1:n.1654A>T
ENST00000639954.1:n.1794A>T
ENST00000640505.1:n.325A>T
ENST00000321612.6:c.2086A>T	ENSP00000370737.3:p.Met696Leu
NM_000170.2:c.2086A>T , LRG_643t1:c.2086A>T	NP_000161.2:p.Met696Leu
NM_000170.3:c.2086A>T MANE Select	NP_000161.2:p.Met696Leu