Canonical Allele Identifier: CA480743680
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1480035
ClinVar RCV Id: RCV002021961
dbSNP Id: rs1323788268
gnomAD v2: 12-65563916-C-T
gnomAD v4: 12-65170136-C-T
MyVariant Identifiers: chr12:g.65563916C>T (hg19) chr12:g.65170136C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170136C>T , CM000674.2:g.65170136C>T GRCh38
NC_000012.11:g.65563916C>T , CM000674.1:g.65563916C>T GRCh37
NC_000012.10:g.63850183C>T NCBI36
NG_016210.1:g.5566C>T
NG_016210.2:g.5566C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.540C>T MANE Select ENSP00000308369.2:p.Ser180=
ENST00000308330.2:c.540C>T ENSP00000308369.2:p.Ser180=
ENST00000541171.1:n.554C>T
NM_001167614.1:c.540C>T NP_001161086.1:p.Ser180=
NM_014319.4:c.540C>T NP_055134.2:p.Ser180=
NM_014319.5:c.540C>T MANE Select NP_055134.2:p.Ser180=
NM_001167614.2:c.540C>T NP_001161086.1:p.Ser180=
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