Canonical Allele Identifier: CA385673335
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170089C>A , CM000674.2:g.65170089C>A GRCh38
NC_000012.11:g.65563869C>A , CM000674.1:g.65563869C>A GRCh37
NC_000012.10:g.63850136C>A NCBI36
NG_016210.1:g.5519C>A
NG_016210.2:g.5519C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.493C>A MANE Select ENSP00000308369.2:p.Leu165Ile
ENST00000308330.2:c.493C>A ENSP00000308369.2:p.Leu165Ile
ENST00000541171.1:n.507C>A
NM_001167614.1:c.493C>A NP_001161086.1:p.Leu165Ile
NM_014319.4:c.493C>A NP_055134.2:p.Leu165Ile
NM_014319.5:c.493C>A MANE Select NP_055134.2:p.Leu165Ile
NM_001167614.2:c.493C>A NP_001161086.1:p.Leu165Ile