Canonical Allele Identifier: CA385673338
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170090T>A , CM000674.2:g.65170090T>A GRCh38
NC_000012.11:g.65563870T>A , CM000674.1:g.65563870T>A GRCh37
NC_000012.10:g.63850137T>A NCBI36
NG_016210.1:g.5520T>A
NG_016210.2:g.5520T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.494T>A MANE Select ENSP00000308369.2:p.Leu165His
ENST00000308330.2:c.494T>A ENSP00000308369.2:p.Leu165His
ENST00000541171.1:n.508T>A
NM_001167614.1:c.494T>A NP_001161086.1:p.Leu165His
NM_014319.4:c.494T>A NP_055134.2:p.Leu165His
NM_014319.5:c.494T>A MANE Select NP_055134.2:p.Leu165His
NM_001167614.2:c.494T>A NP_001161086.1:p.Leu165His