Canonical Allele Identifier: CA188651590

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2164210
• ClinVar RCV Id: RCV003073549
• dbSNP Id: rs72695507
• gnomAD v2: 9-6558568-G-C
• gnomAD v3: 9-6558568-G-C
• gnomAD v4: 9-6558568-G-C
• MyVariant Identifiers: chr9:g.6558568G>C (hg19) ; chr9:g.6558568G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558568G>C , CM000671.2:g.6558568G>C	GRCh38
NC_000009.11:g.6558568G>C , CM000671.1:g.6558568G>C	GRCh37
NC_000009.10:g.6548568G>C	NCBI36
NG_016397.1:g.92125C>G , LRG_643:g.92125C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2043C>G MANE Select	ENSP00000370737.4:p.Leu681=
ENST00000460457.2:n.203C>G
ENST00000638233.1:n.478C>G
ENST00000638661.1:c.243C>G	ENSP00000491369.1:p.Leu81=
ENST00000638694.1:n.230C>G
ENST00000639318.1:c.243C>G	ENSP00000491932.1:p.Leu81=
ENST00000639364.1:n.1743C>G
ENST00000639443.1:n.1611C>G
ENST00000639954.1:n.1751C>G
ENST00000640208.1:c.243C>G	ENSP00000491895.1:p.Leu81=
ENST00000640505.1:n.282C>G
ENST00000640592.1:n.1926C>G
ENST00000321612.6:c.2043C>G	ENSP00000370737.3:p.Leu681=
ENST00000460457.1:n.182C>G
NM_000170.2:c.2043C>G , LRG_643t1:c.2043C>G	NP_000161.2:p.Leu681=
NM_000170.3:c.2043C>G MANE Select	NP_000161.2:p.Leu681=