Canonical Allele Identifier: CA361994750
Gene: LSM11 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.157754046G>A
GRCh37 chr5:g.157181054G>A
Revel Score:
ENST00000286307 (MANE Select) 0.533
gnomAD v4:
chr5-157754046-G-A
Joint Max Group AF 0.00000941 (SAS)
Exomes Max Group AF 0.00000997 (SAS)
ClinVar RCV:
RCV001568350
ClinVar Variation:
1202617
dbSNP:
2113077087
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157754046G>A , CM000667.2:g.157754046G>A GRCh38
NC_000005.9:g.157181054G>A , CM000667.1:g.157181054G>A GRCh37
NC_000005.8:g.157113632G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000286307.6:c.631G>A MANE Select ENSP00000286307.5:p.Gly211Ser
ENST00000286307.5:c.631G>A ENSP00000286307.5:p.Gly211Ser
NM_173491.3:c.631G>A NP_775762.1:p.Gly211Ser
NM_173491.4:c.631G>A MANE Select NP_775762.1:p.Gly211Ser
Search 100 bp 5'
Search 100 bp 3'