Canonical Allele Identifier: CA385673439
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1418069
ClinVar RCV Id: RCV001930840
dbSNP Id: rs868042374
gnomAD v4: 12-65170139-G-C
MyVariant Identifiers: chr12:g.65563919G>C (hg19) chr12:g.65170139G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170139G>C , CM000674.2:g.65170139G>C GRCh38
NC_000012.11:g.65563919G>C , CM000674.1:g.65563919G>C GRCh37
NC_000012.10:g.63850186G>C NCBI36
NG_016210.1:g.5569G>C
NG_016210.2:g.5569G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.543G>C MANE Select ENSP00000308369.2:p.Glu181Asp
ENST00000308330.2:c.543G>C ENSP00000308369.2:p.Glu181Asp
ENST00000541171.1:n.557G>C
NM_001167614.1:c.543G>C NP_001161086.1:p.Glu181Asp
NM_014319.4:c.543G>C NP_055134.2:p.Glu181Asp
NM_014319.5:c.543G>C MANE Select NP_055134.2:p.Glu181Asp
NM_001167614.2:c.543G>C NP_001161086.1:p.Glu181Asp
Search 100 bp 5'
Search 100 bp 3'