Canonical Allele Identifier: CA385673296
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1247974000
gnomAD v2: 12-65563857-G-A
gnomAD v3: 12-65170077-G-A
gnomAD v4: 12-65170077-G-A
MyVariant Identifiers: chr12:g.65563857G>A (hg19) chr12:g.65170077G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170077G>A , CM000674.2:g.65170077G>A GRCh38
NC_000012.11:g.65563857G>A , CM000674.1:g.65563857G>A GRCh37
NC_000012.10:g.63850124G>A NCBI36
NG_016210.1:g.5507G>A
NG_016210.2:g.5507G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.481G>A MANE Select ENSP00000308369.2:p.Asp161Asn
ENST00000308330.2:c.481G>A ENSP00000308369.2:p.Asp161Asn
ENST00000541171.1:n.495G>A
NM_001167614.1:c.481G>A NP_001161086.1:p.Asp161Asn
NM_014319.4:c.481G>A NP_055134.2:p.Asp161Asn
NM_014319.5:c.481G>A MANE Select NP_055134.2:p.Asp161Asn
NM_001167614.2:c.481G>A NP_001161086.1:p.Asp161Asn
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