Canonical Allele Identifier: CA6670720
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs536611944
ExAC: 12:65563897 C / T
gnomAD v2: 12-65563897-C-T
gnomAD v3: 12-65170117-C-T
gnomAD v4: 12-65170117-C-T
MyVariant Identifiers: chr12:g.65563897C>T (hg19) chr12:g.65170117C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170117C>T , CM000674.2:g.65170117C>T GRCh38
NC_000012.11:g.65563897C>T , CM000674.1:g.65563897C>T GRCh37
NC_000012.10:g.63850164C>T NCBI36
NG_016210.1:g.5547C>T
NG_016210.2:g.5547C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.521C>T MANE Select ENSP00000308369.2:p.Pro174Leu
ENST00000308330.2:c.521C>T ENSP00000308369.2:p.Pro174Leu
ENST00000541171.1:n.535C>T
NM_001167614.1:c.521C>T NP_001161086.1:p.Pro174Leu
NM_014319.4:c.521C>T NP_055134.2:p.Pro174Leu
NM_014319.5:c.521C>T MANE Select NP_055134.2:p.Pro174Leu
NM_001167614.2:c.521C>T NP_001161086.1:p.Pro174Leu
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