Canonical Allele Identifier: CA121620
Gene: GDI1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11626
ClinVar RCV Id: RCV000012392 RCV001797587
dbSNP Id: rs121434607
MyVariant Identifiers: chrX:g.153667373T>C (hg19) chrX:g.154439027T>C (hg38)
PubMed: PMID:8826463
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154439027T>C , CM000685.2:g.154439027T>C GRCh38
NC_000023.10:g.153667373T>C , CM000685.1:g.153667373T>C GRCh37
NC_000023.9:g.153320567T>C NCBI36
NG_008954.1:g.7115T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000447750.7:c.275T>C MANE Select ENSP00000394071.2:p.Leu92Pro
ENST00000415109.5:c.*305T>C ENSP00000396215.1:n.*305T>C
ENST00000434049.1:c.275T>C ENSP00000416195.1:p.Leu92Pro
ENST00000445564.5:c.*199T>C ENSP00000394752.1:n.*199T>C
ENST00000447750.6:c.275T>C ENSP00000394071.2:p.Leu92Pro
ENST00000475976.5:n.376T>C
ENST00000481304.5:n.341T>C
ENST00000485143.5:n.513T>C
ENST00000491154.1:n.747T>C
ENST00000630693.2:c.275T>C ENSP00000486715.1:p.Leu92Pro
NM_001493.2:c.275T>C NP_001484.1:p.Leu92Pro
NM_001493.3:c.275T>C MANE Select NP_001484.1:p.Leu92Pro
Search 100 bp 5'
Search 100 bp 3'