Canonical Allele Identifier: CA6670719
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs775048974
ExAC: 12:65563891 C / T
gnomAD v2: 12-65563891-C-T
gnomAD v3: 12-65170111-C-T
gnomAD v4: 12-65170111-C-T
MyVariant Identifiers: chr12:g.65563891C>T (hg19) chr12:g.65170111C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170111C>T , CM000674.2:g.65170111C>T GRCh38
NC_000012.11:g.65563891C>T , CM000674.1:g.65563891C>T GRCh37
NC_000012.10:g.63850158C>T NCBI36
NG_016210.1:g.5541C>T
NG_016210.2:g.5541C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.515C>T MANE Select ENSP00000308369.2:p.Ala172Val
ENST00000308330.2:c.515C>T ENSP00000308369.2:p.Ala172Val
ENST00000541171.1:n.529C>T
NM_001167614.1:c.515C>T NP_001161086.1:p.Ala172Val
NM_014319.4:c.515C>T NP_055134.2:p.Ala172Val
NM_014319.5:c.515C>T MANE Select NP_055134.2:p.Ala172Val
NM_001167614.2:c.515C>T NP_001161086.1:p.Ala172Val
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