Canonical Allele Identifier: CA6671056
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2023225
ClinVar RCV Id: RCV002875798
dbSNP Id: rs776002588
ExAC: 12:65632524 G / C
gnomAD v2: 12-65632524-G-C
gnomAD v4: 12-65238744-G-C
MyVariant Identifiers: chr12:g.65632524G>C (hg19) chr12:g.65238744G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238744G>C , CM000674.2:g.65238744G>C GRCh38
NC_000012.11:g.65632524G>C , CM000674.1:g.65632524G>C GRCh37
NC_000012.10:g.63918791G>C NCBI36
NG_016210.1:g.74174G>C
NG_016210.2:g.74174G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1851G>C MANE Select ENSP00000308369.2:p.Leu617=
ENST00000308330.2:c.1851G>C ENSP00000308369.2:p.Leu617=
NM_001167614.1:c.1848G>C NP_001161086.1:p.Leu616=
NM_014319.4:c.1851G>C NP_055134.2:p.Leu617=
NM_014319.5:c.1851G>C MANE Select NP_055134.2:p.Leu617=
NM_001167614.2:c.1848G>C NP_001161086.1:p.Leu616=
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