Canonical Allele Identifier: CA10638382
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310221
ClinVar RCV Id: RCV000273452 RCV001859855
dbSNP Id: rs886049774
gnomAD v4: 12-65169945-A-G
MyVariant Identifiers: chr12:g.65563725A>G (hg19) chr12:g.65169945A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65169945A>G , CM000674.2:g.65169945A>G GRCh38
NC_000012.11:g.65563725A>G , CM000674.1:g.65563725A>G GRCh37
NC_000012.10:g.63849992A>G NCBI36
NG_016210.1:g.5375A>G
NG_016210.2:g.5375A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.349A>G MANE Select ENSP00000308369.2:p.Ser117Gly
ENST00000308330.2:c.349A>G ENSP00000308369.2:p.Ser117Gly
ENST00000541171.1:n.363A>G
NM_001167614.1:c.349A>G NP_001161086.1:p.Ser117Gly
NM_014319.4:c.349A>G NP_055134.2:p.Ser117Gly
NM_014319.5:c.349A>G MANE Select NP_055134.2:p.Ser117Gly
NM_001167614.2:c.349A>G NP_001161086.1:p.Ser117Gly
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