Canonical Allele Identifier: CA372881827

Gene: GLDC

Linked Data

• ClinVar Variation Id: 1434661
• ClinVar RCV Id: RCV001955051
• dbSNP Id: rs753457618
• gnomAD v4: 9-6558570-G-T
• MyVariant Identifiers: chr9:g.6558570G>T (hg19) ; chr9:g.6558570G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558570G>T , CM000671.2:g.6558570G>T	GRCh38
NC_000009.11:g.6558570G>T , CM000671.1:g.6558570G>T	GRCh37
NC_000009.10:g.6548570G>T	NCBI36
NG_016397.1:g.92123C>A , LRG_643:g.92123C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2041C>A MANE Select	ENSP00000370737.4:p.Leu681Ile
ENST00000460457.2:n.201C>A
ENST00000638233.1:n.476C>A
ENST00000638661.1:c.241C>A	ENSP00000491369.1:p.Leu81Ile
ENST00000638694.1:n.228C>A
ENST00000639318.1:c.241C>A	ENSP00000491932.1:p.Leu81Ile
ENST00000639364.1:n.1741C>A
ENST00000639443.1:n.1609C>A
ENST00000639954.1:n.1749C>A
ENST00000640208.1:c.241C>A	ENSP00000491895.1:p.Leu81Ile
ENST00000640505.1:n.280C>A
ENST00000640592.1:n.1924C>A
ENST00000321612.6:c.2041C>A	ENSP00000370737.3:p.Leu681Ile
ENST00000460457.1:n.180C>A
NM_000170.2:c.2041C>A , LRG_643t1:c.2041C>A	NP_000161.2:p.Leu681Ile
NM_000170.3:c.2041C>A MANE Select	NP_000161.2:p.Leu681Ile