Canonical Allele Identifier: CA4980395
Gene: GLDC HGNC NCBI

Linked Data

ClinVar Variation Id: 1081832
ClinVar RCV Id: RCV001397945
dbSNP Id: rs145547090
ExAC: 9:6556270 G / T
gnomAD v2: 9-6556270-G-T
gnomAD v3: 9-6556270-G-T
gnomAD v4: 9-6556270-G-T
MyVariant Identifiers: chr9:g.6556270G>T (hg19) chr9:g.6556270G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.6556270G>T , CM000671.2:g.6556270G>T GRCh38
NC_000009.11:g.6556270G>T , CM000671.1:g.6556270G>T GRCh37
NC_000009.10:g.6546270G>T NCBI36
NG_016397.1:g.94423C>A , LRG_643:g.94423C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000321612.8:c.2085C>A MANE Select ENSP00000370737.4:p.Ile695=
ENST00000638233.1:n.520C>A
ENST00000638661.1:c.285C>A ENSP00000491369.1:p.Ile95=
ENST00000638694.1:n.272C>A
ENST00000639318.1:c.285C>A ENSP00000491932.1:p.Ile95=
ENST00000639364.1:n.1785C>A
ENST00000639443.1:n.1653C>A
ENST00000639954.1:n.1793C>A
ENST00000640505.1:n.324C>A
ENST00000321612.6:c.2085C>A ENSP00000370737.3:p.Ile695=
NM_000170.2:c.2085C>A , LRG_643t1:c.2085C>A NP_000161.2:p.Ile695=
NM_000170.3:c.2085C>A MANE Select NP_000161.2:p.Ile695=
Search 100 bp 5'
Search 100 bp 3'