Canonical Allele Identifier: CA238907670
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1910614
ClinVar RCV Id: RCV002587801
dbSNP Id: rs946036522
gnomAD v2: 12-65563661-G-A
gnomAD v3: 12-65169881-G-A
gnomAD v4: 12-65169881-G-A
MyVariant Identifiers: chr12:g.65563661G>A (hg19) chr12:g.65169881G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65169881G>A , CM000674.2:g.65169881G>A GRCh38
NC_000012.11:g.65563661G>A , CM000674.1:g.65563661G>A GRCh37
NC_000012.10:g.63849928G>A NCBI36
NG_016210.1:g.5311G>A
NG_016210.2:g.5311G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.285G>A MANE Select ENSP00000308369.2:p.Ser95=
ENST00000308330.2:c.285G>A ENSP00000308369.2:p.Ser95=
ENST00000541171.1:n.299G>A
NM_001167614.1:c.285G>A NP_001161086.1:p.Ser95=
NM_014319.4:c.285G>A NP_055134.2:p.Ser95=
NM_014319.5:c.285G>A MANE Select NP_055134.2:p.Ser95=
NM_001167614.2:c.285G>A NP_001161086.1:p.Ser95=
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Search 100 bp 3'