Canonical Allele Identifier: CA188651599

Gene: GLDC

Linked Data

• dbSNP Id: rs1028013646
• gnomAD v4: 9-6558801-G-C
• MyVariant Identifiers: chr9:g.6558801G>C (hg19) ; chr9:g.6558801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6558801G>C , CM000671.2:g.6558801G>C	GRCh38
NC_000009.11:g.6558801G>C , CM000671.1:g.6558801G>C	GRCh37
NC_000009.10:g.6548801G>C	NCBI36
NG_016397.1:g.91892C>G , LRG_643:g.91892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1927-117C>G MANE Select	ENSP00000370737.4:n.1927-117C>G
ENST00000460457.2:n.87-117C>G
ENST00000638233.1:n.362-117C>G
ENST00000638661.1:c.127-117C>G	ENSP00000491369.1:n.127-117C>G
ENST00000638694.1:n.114-117C>G
ENST00000639318.1:c.127-117C>G	ENSP00000491932.1:n.127-117C>G
ENST00000639364.1:n.1627-117C>G
ENST00000639443.1:n.1495-117C>G
ENST00000639954.1:n.1635-117C>G
ENST00000640208.1:c.127-117C>G	ENSP00000491895.1:n.127-117C>G
ENST00000640505.1:n.166-117C>G
ENST00000640592.1:n.1810-117C>G
ENST00000321612.6:c.1927-117C>G	ENSP00000370737.3:n.1927-117C>G
ENST00000460457.1:n.66-117C>G
NM_000170.2:c.1927-117C>G , LRG_643t1:c.1927-117C>G	NP_000161.2:n.1927-117C>G
NM_000170.3:c.1927-117C>G MANE Select	NP_000161.2:n.1927-117C>G