Canonical Allele Identifier: CA2488897
Gene: LMOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 970377
ClinVar RCV Id: RCV001245941
dbSNP Id: rs758653889
ExAC: 3:69168611 C / T
gnomAD v2: 3-69168611-C-T
gnomAD v3: 3-69119460-C-T
gnomAD v4: 3-69119460-C-T
MyVariant Identifiers: chr3:g.69168611C>T (hg19) chr3:g.69119460C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119460C>T , CM000665.2:g.69119460C>T GRCh38
NC_000003.11:g.69168611C>T , CM000665.1:g.69168611C>T GRCh37
NC_000003.10:g.69251301C>T NCBI36
NG_041828.1:g.8136G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.895G>A MANE Select ENSP00000414670.3:p.Ala299Thr
ENST00000420581.6:c.895G>A ENSP00000414670.2:p.Ala299Thr
ENST00000475434.1:c.895G>A ENSP00000418645.1:p.Ala299Thr
ENST00000489031.5:c.895G>A ENSP00000417210.1:p.Ala299Thr
NM_001304418.1:c.895G>A NP_001291347.1:p.Ala299Thr
NM_198271.4:c.895G>A NP_938012.2:p.Ala299Thr
NM_001304418.3:c.895G>A NP_001291347.1:p.Ala299Thr
NM_198271.5:c.895G>A MANE Select NP_938012.2:p.Ala299Thr
Search 100 bp 5'
Search 100 bp 3'