Canonical Allele Identifier: CA385673449
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1480262
ClinVar RCV Id: RCV001985894
dbSNP Id: rs2136312741
gnomAD v4: 12-65170144-C-G
MyVariant Identifiers: chr12:g.65563924C>G (hg19) chr12:g.65170144C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170144C>G , CM000674.2:g.65170144C>G GRCh38
NC_000012.11:g.65563924C>G , CM000674.1:g.65563924C>G GRCh37
NC_000012.10:g.63850191C>G NCBI36
NG_016210.1:g.5574C>G
NG_016210.2:g.5574C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.548C>G MANE Select ENSP00000308369.2:p.Thr183Ser
ENST00000308330.2:c.548C>G ENSP00000308369.2:p.Thr183Ser
ENST00000541171.1:n.562C>G
NM_001167614.1:c.548C>G NP_001161086.1:p.Thr183Ser
NM_014319.4:c.548C>G NP_055134.2:p.Thr183Ser
NM_014319.5:c.548C>G MANE Select NP_055134.2:p.Thr183Ser
NM_001167614.2:c.548C>G NP_001161086.1:p.Thr183Ser
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