Canonical Allele Identifier: CA463585596

Gene: GLDC

Linked Data

• ClinVar Variation Id: 2041002
• ClinVar RCV Id: RCV002912820
• gnomAD v4: 9-6558577-T-C
• MyVariant Identifiers: chr9:g.6558577T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558577T>C , CM000671.2:g.6558577T>C	GRCh38
NC_000009.11:g.6558577T>C , CM000671.1:g.6558577T>C	GRCh37
NC_000009.10:g.6548577T>C	NCBI36
NG_016397.1:g.92116A>G , LRG_643:g.92116A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2034A>G MANE Select	ENSP00000370737.4:p.Ala678=
ENST00000460457.2:n.194A>G
ENST00000638233.1:n.469A>G
ENST00000638661.1:c.234A>G	ENSP00000491369.1:p.Ala78=
ENST00000638694.1:n.221A>G
ENST00000639318.1:c.234A>G	ENSP00000491932.1:p.Ala78=
ENST00000639364.1:n.1734A>G
ENST00000639443.1:n.1602A>G
ENST00000639954.1:n.1742A>G
ENST00000640208.1:c.234A>G	ENSP00000491895.1:p.Ala78=
ENST00000640505.1:n.273A>G
ENST00000640592.1:n.1917A>G
ENST00000321612.6:c.2034A>G	ENSP00000370737.3:p.Ala678=
ENST00000460457.1:n.173A>G
NM_000170.2:c.2034A>G , LRG_643t1:c.2034A>G	NP_000161.2:p.Ala678=
NM_000170.3:c.2034A>G MANE Select	NP_000161.2:p.Ala678=