Canonical Allele Identifier: CA480743685
Gene: LEMD3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.65563919G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170139G>A , CM000674.2:g.65170139G>A GRCh38
NC_000012.11:g.65563919G>A , CM000674.1:g.65563919G>A GRCh37
NC_000012.10:g.63850186G>A NCBI36
NG_016210.1:g.5569G>A
NG_016210.2:g.5569G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.543G>A MANE Select ENSP00000308369.2:p.Glu181=
ENST00000308330.2:c.543G>A ENSP00000308369.2:p.Glu181=
ENST00000541171.1:n.557G>A
NM_001167614.1:c.543G>A NP_001161086.1:p.Glu181=
NM_014319.4:c.543G>A NP_055134.2:p.Glu181=
NM_014319.5:c.543G>A MANE Select NP_055134.2:p.Glu181=
NM_001167614.2:c.543G>A NP_001161086.1:p.Glu181=