Canonical Allele Identifier: CA385673422
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1363865
ClinVar RCV Id: RCV001937216
dbSNP Id: rs1868473928
gnomAD v3: 12-65170132-C-A
gnomAD v4: 12-65170132-C-A
MyVariant Identifiers: chr12:g.65563912C>A (hg19) chr12:g.65170132C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170132C>A , CM000674.2:g.65170132C>A GRCh38
NC_000012.11:g.65563912C>A , CM000674.1:g.65563912C>A GRCh37
NC_000012.10:g.63850179C>A NCBI36
NG_016210.1:g.5562C>A
NG_016210.2:g.5562C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.536C>A MANE Select ENSP00000308369.2:p.Ala179Asp
ENST00000308330.2:c.536C>A ENSP00000308369.2:p.Ala179Asp
ENST00000541171.1:n.550C>A
NM_001167614.1:c.536C>A NP_001161086.1:p.Ala179Asp
NM_014319.4:c.536C>A NP_055134.2:p.Ala179Asp
NM_014319.5:c.536C>A MANE Select NP_055134.2:p.Ala179Asp
NM_001167614.2:c.536C>A NP_001161086.1:p.Ala179Asp
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