Canonical Allele Identifier: CA415193241
Gene: LAGE3 HGNC NCBI

Linked Data

ClinVar Variation Id: 444873
ClinVar RCV Id: RCV000513038
dbSNP Id: rs1557211410
gnomAD v4: X-154478727-C-T
MyVariant Identifiers: chrX:g.153707066C>T (hg19) chrX:g.154478727C>T (hg38)
PubMed: PMID:28805828
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154478727C>T , CM000685.2:g.154478727C>T GRCh38
NC_000023.10:g.153707066C>T , CM000685.1:g.153707066C>T GRCh37
NC_000023.9:g.153360260C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357360.5:c.188+1G>A MANE Select ENSP00000349923.4:n.188+1G>A
ENST00000357360.4:c.188+1G>A ENSP00000349923.4:n.188+1G>A
ENST00000621786.1:c.174+1G>A ENSP00000478022.1:n.174+1G>A
NM_006014.4:c.188+1G>A NP_006005.2:n.188+1G>A
NM_006014.5:c.188+1G>A MANE Select NP_006005.2:n.188+1G>A
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