Canonical Allele Identifier: CA2488913
Gene: LMOD3 HGNC NCBI

Linked Data

dbSNP Id: rs752855693
gnomAD v2: 3-69168676-G-T
gnomAD v3: 3-69119525-G-T
gnomAD v4: 3-69119525-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119525G>T , CM000665.2:g.69119525G>T GRCh38
NC_000003.11:g.69168676G>T , CM000665.1:g.69168676G>T GRCh37
NC_000003.10:g.69251366G>T NCBI36
NG_041828.1:g.8071C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.830C>A MANE Select ENSP00000414670.3:p.Ala277Glu
ENST00000420581.6:c.830C>A ENSP00000414670.2:p.Ala277Glu
ENST00000475434.1:c.830C>A ENSP00000418645.1:p.Ala277Glu
ENST00000489031.5:c.830C>A ENSP00000417210.1:p.Ala277Glu
NM_001304418.1:c.830C>A NP_001291347.1:p.Ala277Glu
NM_198271.4:c.830C>A NP_938012.2:p.Ala277Glu
NM_001304418.3:c.830C>A NP_001291347.1:p.Ala277Glu
NM_198271.5:c.830C>A MANE Select NP_938012.2:p.Ala277Glu