Canonical Allele Identifier: CA415191262

Gene: LAGE3

Linked Data

• ClinVar Variation Id: 444872
• ClinVar RCV Id: RCV000512681
• dbSNP Id: rs1557211209
• MyVariant Identifiers: chrX:g.153706305A>G (hg19) ; chrX:g.154477966A>G (hg38)
• PubMed: PMID:12693786 ; PMID:28805828

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154477966A>G , CM000685.2:g.154477966A>G	GRCh38
NC_000023.10:g.153706305A>G , CM000685.1:g.153706305A>G	GRCh37
NC_000023.9:g.153359499A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357360.5:c.410T>C MANE Select	ENSP00000349923.4:p.Phe137Ser
ENST00000357360.4:c.410T>C	ENSP00000349923.4:p.Phe137Ser
ENST00000621786.1:c.*78T>C	ENSP00000478022.1:n.*78T>C
NM_006014.4:c.410T>C	NP_006005.2:p.Phe137Ser
NM_006014.5:c.410T>C MANE Select	NP_006005.2:p.Phe137Ser