Canonical Allele Identifier: CA188651591

Gene: GLDC

Linked Data

• dbSNP Id: rs949464213
• gnomAD v4: 9-6558580-A-C
• MyVariant Identifiers: chr9:g.6558580A>C (hg19) ; chr9:g.6558580A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558580A>C , CM000671.2:g.6558580A>C	GRCh38
NC_000009.11:g.6558580A>C , CM000671.1:g.6558580A>C	GRCh37
NC_000009.10:g.6548580A>C	NCBI36
NG_016397.1:g.92113T>G , LRG_643:g.92113T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.2031T>G MANE Select	ENSP00000370737.4:p.Asp677Glu
ENST00000460457.2:n.191T>G
ENST00000638233.1:n.466T>G
ENST00000638661.1:c.231T>G	ENSP00000491369.1:p.Asp77Glu
ENST00000638694.1:n.218T>G
ENST00000639318.1:c.231T>G	ENSP00000491932.1:p.Asp77Glu
ENST00000639364.1:n.1731T>G
ENST00000639443.1:n.1599T>G
ENST00000639954.1:n.1739T>G
ENST00000640208.1:c.231T>G	ENSP00000491895.1:p.Asp77Glu
ENST00000640505.1:n.270T>G
ENST00000640592.1:n.1914T>G
ENST00000321612.6:c.2031T>G	ENSP00000370737.3:p.Asp677Glu
ENST00000460457.1:n.170T>G
NM_000170.2:c.2031T>G , LRG_643t1:c.2031T>G	NP_000161.2:p.Asp677Glu
NM_000170.3:c.2031T>G MANE Select	NP_000161.2:p.Asp677Glu