Canonical Allele Identifier: CA263318
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 56053
ClinVar RCV Id: RCV000049462
dbSNP Id: rs386833534

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6565353C>T , CM000671.2:g.6565353C>T GRCh38
NC_000009.11:g.6565353C>T , CM000671.1:g.6565353C>T GRCh37
NC_000009.10:g.6555353C>T NCBI36
NG_016397.1:g.85340G>A , LRG_643:g.85340G>A

Transcript Alleles

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