Canonical Allele Identifier: CA10638405
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310252
ClinVar RCV Id: RCV000338439
dbSNP Id: rs145080926
gnomAD v2: 12-65641007-G-A
gnomAD v3: 12-65247227-G-A
gnomAD v4: 12-65247227-G-A
MyVariant Identifiers: chr12:g.65641007G>A (hg19) chr12:g.65247227G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65247227G>A , CM000674.2:g.65247227G>A GRCh38
NC_000012.11:g.65641007G>A , CM000674.1:g.65641007G>A GRCh37
NC_000012.10:g.63927274G>A NCBI36
NG_016210.1:g.82657G>A
NG_016210.2:g.82657G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.*902G>A MANE Select ENSP00000308369.2:n.*902G>A
ENST00000308330.2:c.*902G>A ENSP00000308369.2:n.*902G>A
NM_001167614.1:c.*902G>A NP_001161086.1:n.*902G>A
NM_014319.4:c.*902G>A NP_055134.2:n.*902G>A
NM_014319.5:c.*902G>A MANE Select NP_055134.2:n.*902G>A
NM_001167614.2:c.*902G>A NP_001161086.1:n.*902G>A
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