Canonical Allele Identifier: CA6670982
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310236
ClinVar RCV Id: RCV000263884 RCV001672479
dbSNP Id: rs6581620
ExAC: 12:65612321 A / C
gnomAD v2: 12-65612321-A-C
gnomAD v3: 12-65218541-A-C
gnomAD v4: 12-65218541-A-C
MyVariant Identifiers: chr12:g.65612321A>C (hg19) chr12:g.65218541A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65218541A>C , CM000674.2:g.65218541A>C GRCh38
NC_000012.11:g.65612321A>C , CM000674.1:g.65612321A>C GRCh37
NC_000012.10:g.63898588A>C NCBI36
NG_016210.1:g.53971A>C
NG_016210.2:g.53971A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1628-11A>C MANE Select ENSP00000308369.2:n.1628-11A>C
ENST00000308330.2:c.1628-11A>C ENSP00000308369.2:n.1628-11A>C
NM_001167614.1:c.1625-11A>C NP_001161086.1:n.1625-11A>C
NM_014319.4:c.1628-11A>C NP_055134.2:n.1628-11A>C
NM_014319.5:c.1628-11A>C MANE Select NP_055134.2:n.1628-11A>C
NM_001167614.2:c.1625-11A>C NP_001161086.1:n.1625-11A>C
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