Canonical Allele Identifier: CA385673473
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2867655
ClinVar RCV Id: RCV003702865
gnomAD v4: 12-65170155-T-A
MyVariant Identifiers: chr12:g.65563935T>A (hg19) chr12:g.65170155T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170155T>A , CM000674.2:g.65170155T>A GRCh38
NC_000012.11:g.65563935T>A , CM000674.1:g.65563935T>A GRCh37
NC_000012.10:g.63850202T>A NCBI36
NG_016210.1:g.5585T>A
NG_016210.2:g.5585T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.559T>A MANE Select ENSP00000308369.2:p.Ser187Thr
ENST00000308330.2:c.559T>A ENSP00000308369.2:p.Ser187Thr
ENST00000541171.1:n.573T>A
NM_001167614.1:c.559T>A NP_001161086.1:p.Ser187Thr
NM_014319.4:c.559T>A NP_055134.2:p.Ser187Thr
NM_014319.5:c.559T>A MANE Select NP_055134.2:p.Ser187Thr
NM_001167614.2:c.559T>A NP_001161086.1:p.Ser187Thr
Search 100 bp 5'
Search 100 bp 3'