Canonical Allele Identifier: CA2488903
Gene: LMOD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 850541
ClinVar RCV Id: RCV001054729
dbSNP Id: rs768467240
gnomAD v2: 3-69168634-T-C
gnomAD v3: 3-69119483-T-C
gnomAD v4: 3-69119483-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.69119483T>C , CM000665.2:g.69119483T>C GRCh38
NC_000003.11:g.69168634T>C , CM000665.1:g.69168634T>C GRCh37
NC_000003.10:g.69251324T>C NCBI36
NG_041828.1:g.8113A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000420581.7:c.872A>G MANE Select ENSP00000414670.3:p.Asn291Ser
ENST00000420581.6:c.872A>G ENSP00000414670.2:p.Asn291Ser
ENST00000475434.1:c.872A>G ENSP00000418645.1:p.Asn291Ser
ENST00000489031.5:c.872A>G ENSP00000417210.1:p.Asn291Ser
NM_001304418.1:c.872A>G NP_001291347.1:p.Asn291Ser
NM_198271.4:c.872A>G NP_938012.2:p.Asn291Ser
NM_001304418.3:c.872A>G NP_001291347.1:p.Asn291Ser
NM_198271.5:c.872A>G MANE Select NP_938012.2:p.Asn291Ser