Canonical Allele Identifier: CA658657857

Gene: GLDC

Linked Data

• ClinVar Variation Id: 462862
• ClinVar RCV Id: RCV000534696
• dbSNP Id: rs1554644678
• MyVariant Identifiers: chr9:g.6565349C>T (hg19) ; chr9:g.6565349C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.6565349C>T , CM000671.2:g.6565349C>T	GRCh38
NC_000009.11:g.6565349C>T , CM000671.1:g.6565349C>T	GRCh37
NC_000009.10:g.6555349C>T	NCBI36
NG_016397.1:g.85344G>A , LRG_643:g.85344G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321612.8:c.1926+5G>A MANE Select	ENSP00000370737.4:n.1926+5G>A
ENST00000460457.2:n.86+5G>A
ENST00000638233.1:n.361+5G>A
ENST00000638661.1:c.126+5G>A	ENSP00000491369.1:n.126+5G>A
ENST00000638694.1:n.113+5G>A
ENST00000639318.1:c.126+5G>A	ENSP00000491932.1:n.126+5G>A
ENST00000639364.1:n.1626+5G>A
ENST00000639443.1:n.1494+5G>A
ENST00000639954.1:n.1634+5G>A
ENST00000640208.1:c.126+5G>A	ENSP00000491895.1:n.126+5G>A
ENST00000640505.1:n.165+5G>A
ENST00000640592.1:n.1809+5G>A
ENST00000321612.6:c.1926+5G>A	ENSP00000370737.3:n.1926+5G>A
ENST00000460457.1:n.65+5G>A
NM_000170.2:c.1926+5G>A , LRG_643t1:c.1926+5G>A	NP_000161.2:n.1926+5G>A
NM_000170.3:c.1926+5G>A MANE Select	NP_000161.2:n.1926+5G>A