Canonical Allele Identifier: CA385673344
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1868471847
gnomAD v4: 12-65170093-A-C
MyVariant Identifiers: chr12:g.65563873A>C (hg19) chr12:g.65170093A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170093A>C , CM000674.2:g.65170093A>C GRCh38
NC_000012.11:g.65563873A>C , CM000674.1:g.65563873A>C GRCh37
NC_000012.10:g.63850140A>C NCBI36
NG_016210.1:g.5523A>C
NG_016210.2:g.5523A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.497A>C MANE Select ENSP00000308369.2:p.Gln166Pro
ENST00000308330.2:c.497A>C ENSP00000308369.2:p.Gln166Pro
ENST00000541171.1:n.511A>C
NM_001167614.1:c.497A>C NP_001161086.1:p.Gln166Pro
NM_014319.4:c.497A>C NP_055134.2:p.Gln166Pro
NM_014319.5:c.497A>C MANE Select NP_055134.2:p.Gln166Pro
NM_001167614.2:c.497A>C NP_001161086.1:p.Gln166Pro
Search 100 bp 5'
Search 100 bp 3'