Canonical Allele Identifier: CA6670722
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2893023
ClinVar RCV Id: RCV003732626
dbSNP Id: rs757121957
ExAC: 12:65563920 G / T
gnomAD v2: 12-65563920-G-T
gnomAD v3: 12-65170140-G-T
gnomAD v4: 12-65170140-G-T
MyVariant Identifiers: chr12:g.65563920G>T (hg19) chr12:g.65170140G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170140G>T , CM000674.2:g.65170140G>T GRCh38
NC_000012.11:g.65563920G>T , CM000674.1:g.65563920G>T GRCh37
NC_000012.10:g.63850187G>T NCBI36
NG_016210.1:g.5570G>T
NG_016210.2:g.5570G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.544G>T MANE Select ENSP00000308369.2:p.Val182Leu
ENST00000308330.2:c.544G>T ENSP00000308369.2:p.Val182Leu
ENST00000541171.1:n.558G>T
NM_001167614.1:c.544G>T NP_001161086.1:p.Val182Leu
NM_014319.4:c.544G>T NP_055134.2:p.Val182Leu
NM_014319.5:c.544G>T MANE Select NP_055134.2:p.Val182Leu
NM_001167614.2:c.544G>T NP_001161086.1:p.Val182Leu
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