Canonical Allele Identifier: CA115738
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2759
dbSNP Id: rs267607217

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239970C>T , CM000674.2:g.65239970C>T GRCh38
NC_000012.11:g.65633750C>T , CM000674.1:g.65633750C>T GRCh37
NC_000012.10:g.63920017C>T NCBI36
NG_016210.1:g.75400C>T
NG_016210.2:g.75400C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.1963C>T MANE Select ENSP00000308369.2:p.Arg655Ter
ENST00000308330.2:c.1963C>T ENSP00000308369.2:p.Arg655Ter
NM_001167614.1:c.1960C>T NP_001161086.1:p.Arg654Ter
NM_014319.4:c.1963C>T NP_055134.2:p.Arg655Ter
NM_014319.5:c.1963C>T MANE Select NP_055134.2:p.Arg655Ter
NM_001167614.2:c.1960C>T NP_001161086.1:p.Arg654Ter