Canonical Allele Identifier: CA2488880
Gene: LMOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1903567
ClinVar RCV Id: RCV002586447
dbSNP Id: rs769758642
ExAC: 3:69168521 C / T
gnomAD v2: 3-69168521-C-T
gnomAD v4: 3-69119370-C-T
MyVariant Identifiers: chr3:g.69168521C>T (hg19) chr3:g.69119370C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119370C>T , CM000665.2:g.69119370C>T GRCh38
NC_000003.11:g.69168521C>T , CM000665.1:g.69168521C>T GRCh37
NC_000003.10:g.69251211C>T NCBI36
NG_041828.1:g.8226G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.985G>A MANE Select ENSP00000414670.3:p.Ala329Thr
ENST00000420581.6:c.985G>A ENSP00000414670.2:p.Ala329Thr
ENST00000475434.1:c.985G>A ENSP00000418645.1:p.Ala329Thr
ENST00000489031.5:c.985G>A ENSP00000417210.1:p.Ala329Thr
NM_001304418.1:c.985G>A NP_001291347.1:p.Ala329Thr
NM_198271.4:c.985G>A NP_938012.2:p.Ala329Thr
NM_001304418.3:c.985G>A NP_001291347.1:p.Ala329Thr
NM_198271.5:c.985G>A MANE Select NP_938012.2:p.Ala329Thr
Search 100 bp 5'
Search 100 bp 3'