Canonical Allele Identifier: CA385676794
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246269T>G , CM000674.2:g.65246269T>G GRCh38
NC_000012.11:g.65640049T>G , CM000674.1:g.65640049T>G GRCh37
NC_000012.10:g.63926316T>G NCBI36
NG_016210.1:g.81699T>G
NG_016210.2:g.81699T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2680T>G MANE Select ENSP00000308369.2:p.Ser894Ala
ENST00000308330.2:c.2680T>G ENSP00000308369.2:p.Ser894Ala
ENST00000539442.1:n.662T>G
ENST00000544506.1:n.400T>G
ENST00000545026.1:n.498T>G
NM_001167614.1:c.2677T>G NP_001161086.1:p.Ser893Ala
NM_014319.4:c.2680T>G NP_055134.2:p.Ser894Ala
NM_014319.5:c.2680T>G MANE Select NP_055134.2:p.Ser894Ala
NM_001167614.2:c.2677T>G NP_001161086.1:p.Ser893Ala