Canonical Allele Identifier: CA385671971
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2978089
ClinVar RCV Id: RCV003836751

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239989A>G , CM000674.2:g.65239989A>G GRCh38
NC_000012.11:g.65633769A>G , CM000674.1:g.65633769A>G GRCh37
NC_000012.10:g.63920036A>G NCBI36
NG_016210.1:g.75419A>G
NG_016210.2:g.75419A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1982A>G MANE Select ENSP00000308369.2:p.Glu661Gly
ENST00000308330.2:c.1982A>G ENSP00000308369.2:p.Glu661Gly
NM_001167614.1:c.1979A>G NP_001161086.1:p.Glu660Gly
NM_014319.4:c.1982A>G NP_055134.2:p.Glu661Gly
NM_014319.5:c.1982A>G MANE Select NP_055134.2:p.Glu661Gly
NM_001167614.2:c.1979A>G NP_001161086.1:p.Glu660Gly