Canonical Allele Identifier: CA353473302
Gene: LMOD3 HGNC NCBI

Linked Data

dbSNP Id: rs749401069
gnomAD v2: 3-69168458-G-A
gnomAD v4: 3-69119307-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119307G>A , CM000665.2:g.69119307G>A GRCh38
NC_000003.11:g.69168458G>A , CM000665.1:g.69168458G>A GRCh37
NC_000003.10:g.69251148G>A NCBI36
NG_041828.1:g.8289C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.1048C>T MANE Select ENSP00000414670.3:p.His350Tyr
ENST00000420581.6:c.1048C>T ENSP00000414670.2:p.His350Tyr
ENST00000475434.1:c.1048C>T ENSP00000418645.1:p.His350Tyr
ENST00000489031.5:c.1048C>T ENSP00000417210.1:p.His350Tyr
NM_001304418.1:c.1048C>T NP_001291347.1:p.His350Tyr
NM_198271.4:c.1048C>T NP_938012.2:p.His350Tyr
NM_001304418.3:c.1048C>T NP_001291347.1:p.His350Tyr
NM_198271.5:c.1048C>T MANE Select NP_938012.2:p.His350Tyr