Canonical Allele Identifier: CA480666181
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 708989
ClinVar RCV Id: RCV000880333
dbSNP Id: rs1592462366
gnomAD v4: 12-65238786-A-G
MyVariant Identifiers: chr12:g.65632566A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238786A>G , CM000674.2:g.65238786A>G GRCh38
NC_000012.11:g.65632566A>G , CM000674.1:g.65632566A>G GRCh37
NC_000012.10:g.63918833A>G NCBI36
NG_016210.1:g.74216A>G
NG_016210.2:g.74216A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1893A>G MANE Select ENSP00000308369.2:p.Val631=
ENST00000308330.2:c.1893A>G ENSP00000308369.2:p.Val631=
NM_001167614.1:c.1890A>G NP_001161086.1:p.Val630=
NM_014319.4:c.1893A>G NP_055134.2:p.Val631=
NM_014319.5:c.1893A>G MANE Select NP_055134.2:p.Val631=
NM_001167614.2:c.1890A>G NP_001161086.1:p.Val630=
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