Canonical Allele Identifier: CA2042444458
Gene: LEMD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238671G= , CM000674.2:g.65238671G= GRCh38
NC_000012.11:g.65632451G= , CM000674.1:g.65632451G= GRCh37
NC_000012.10:g.63918718G= NCBI36
NG_016210.1:g.74101G=
NG_016210.2:g.74101G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1778G= MANE Select ENSP00000308369.2:p.Cys593=
ENST00000308330.2:c.1778G= ENSP00000308369.2:p.Cys593=
NM_001167614.1:c.1775G= NP_001161086.1:p.Cys592=
NM_014319.4:c.1778G= NP_055134.2:p.Cys593=
NM_014319.5:c.1778G= MANE Select NP_055134.2:p.Cys593=
NM_001167614.2:c.1775G= NP_001161086.1:p.Cys592=