Canonical Allele Identifier: CA4980384
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 1156911
ClinVar RCV Id: RCV001499789
dbSNP Id: rs765205689
ExAC: 9:6556240 C / T
gnomAD v2: 9-6556240-C-T
gnomAD v4: 9-6556240-C-T
MyVariant Identifiers: chr9:g.6556240C>T (hg19) chr9:g.6556240C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556240C>T , CM000671.2:g.6556240C>T GRCh38
NC_000009.11:g.6556240C>T , CM000671.1:g.6556240C>T GRCh37
NC_000009.10:g.6546240C>T NCBI36
NG_016397.1:g.94453G>A , LRG_643:g.94453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2115G>A MANE Select ENSP00000370737.4:p.Val705=
ENST00000638233.1:n.550G>A
ENST00000638661.1:c.315G>A ENSP00000491369.1:p.Val105=
ENST00000638694.1:n.302G>A
ENST00000639318.1:c.315G>A ENSP00000491932.1:p.Val105=
ENST00000639364.1:n.1815G>A
ENST00000639443.1:n.1683G>A
ENST00000639954.1:n.1823G>A
ENST00000640505.1:n.354G>A
ENST00000321612.6:c.2115G>A ENSP00000370737.3:p.Val705=
NM_000170.2:c.2115G>A , LRG_643t1:c.2115G>A NP_000161.2:p.Val705=
NM_000170.3:c.2115G>A MANE Select NP_000161.2:p.Val705=
Search 100 bp 5'
Search 100 bp 3'