Canonical Allele Identifier: CA10643202
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310240
ClinVar RCV Id: RCV000322674
dbSNP Id: rs886049779
gnomAD v3: 12-65238706-A-G
gnomAD v4: 12-65238706-A-G
MyVariant Identifiers: chr12:g.65632486A>G (hg19) chr12:g.65238706A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238706A>G , CM000674.2:g.65238706A>G GRCh38
NC_000012.11:g.65632486A>G , CM000674.1:g.65632486A>G GRCh37
NC_000012.10:g.63918753A>G NCBI36
NG_016210.1:g.74136A>G
NG_016210.2:g.74136A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1813A>G MANE Select ENSP00000308369.2:p.Ile605Val
ENST00000308330.2:c.1813A>G ENSP00000308369.2:p.Ile605Val
NM_001167614.1:c.1810A>G NP_001161086.1:p.Ile604Val
NM_014319.4:c.1813A>G NP_055134.2:p.Ile605Val
NM_014319.5:c.1813A>G MANE Select NP_055134.2:p.Ile605Val
NM_001167614.2:c.1810A>G NP_001161086.1:p.Ile604Val
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