Canonical Allele Identifier: CA6671061
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2548621
ClinVar RCV Id: RCV003277392
dbSNP Id: rs766320286
ExAC: 12:65632547 G / A
gnomAD v2: 12-65632547-G-A
gnomAD v4: 12-65238767-G-A
MyVariant Identifiers: chr12:g.65632547G>A (hg19) chr12:g.65238767G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238767G>A , CM000674.2:g.65238767G>A GRCh38
NC_000012.11:g.65632547G>A , CM000674.1:g.65632547G>A GRCh37
NC_000012.10:g.63918814G>A NCBI36
NG_016210.1:g.74197G>A
NG_016210.2:g.74197G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1874G>A MANE Select ENSP00000308369.2:p.Arg625Gln
ENST00000308330.2:c.1874G>A ENSP00000308369.2:p.Arg625Gln
NM_001167614.1:c.1871G>A NP_001161086.1:p.Arg624Gln
NM_014319.4:c.1874G>A NP_055134.2:p.Arg625Gln
NM_014319.5:c.1874G>A MANE Select NP_055134.2:p.Arg625Gln
NM_001167614.2:c.1871G>A NP_001161086.1:p.Arg624Gln
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