Canonical Allele Identifier: CA2488856
Gene: LMOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 978494
ClinVar RCV Id: RCV001481284 RCV004035369
dbSNP Id: rs201506296
ExAC: 3:69168383 A / G
gnomAD v2: 3-69168383-A-G
gnomAD v3: 3-69119232-A-G
gnomAD v4: 3-69119232-A-G
MyVariant Identifiers: chr3:g.69168383A>G (hg19) chr3:g.69119232A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119232A>G , CM000665.2:g.69119232A>G GRCh38
NC_000003.11:g.69168383A>G , CM000665.1:g.69168383A>G GRCh37
NC_000003.10:g.69251073A>G NCBI36
NG_041828.1:g.8364T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.1123T>C MANE Select ENSP00000414670.3:p.Tyr375His
ENST00000420581.6:c.1123T>C ENSP00000414670.2:p.Tyr375His
ENST00000475434.1:c.1123T>C ENSP00000418645.1:p.Tyr375His
ENST00000489031.5:c.1123T>C ENSP00000417210.1:p.Tyr375His
NM_001304418.1:c.1123T>C NP_001291347.1:p.Tyr375His
NM_198271.4:c.1123T>C NP_938012.2:p.Tyr375His
NM_001304418.3:c.1123T>C NP_001291347.1:p.Tyr375His
NM_198271.5:c.1123T>C MANE Select NP_938012.2:p.Tyr375His
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