Canonical Allele Identifier: CA385671156
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2708018
ClinVar RCV Id: RCV003545142
dbSNP Id: rs1870845461
gnomAD v4: 12-65238714-T-G
MyVariant Identifiers: chr12:g.65632494T>G (hg19) chr12:g.65238714T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238714T>G , CM000674.2:g.65238714T>G GRCh38
NC_000012.11:g.65632494T>G , CM000674.1:g.65632494T>G GRCh37
NC_000012.10:g.63918761T>G NCBI36
NG_016210.1:g.74144T>G
NG_016210.2:g.74144T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1821T>G MANE Select ENSP00000308369.2:p.Asp607Glu
ENST00000308330.2:c.1821T>G ENSP00000308369.2:p.Asp607Glu
NM_001167614.1:c.1818T>G NP_001161086.1:p.Asp606Glu
NM_014319.4:c.1821T>G NP_055134.2:p.Asp607Glu
NM_014319.5:c.1821T>G MANE Select NP_055134.2:p.Asp607Glu
NM_001167614.2:c.1818T>G NP_001161086.1:p.Asp606Glu
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