Canonical Allele Identifier: CA10642335
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310226
ClinVar RCV Id: RCV000380367 RCV002522247
dbSNP Id: rs886049776
gnomAD v2: 12-65564049-G-C
gnomAD v3: 12-65170269-G-C
gnomAD v4: 12-65170269-G-C
MyVariant Identifiers: chr12:g.65564049G>C (hg19) chr12:g.65170269G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170269G>C , CM000674.2:g.65170269G>C GRCh38
NC_000012.11:g.65564049G>C , CM000674.1:g.65564049G>C GRCh37
NC_000012.10:g.63850316G>C NCBI36
NG_016210.1:g.5699G>C
NG_016210.2:g.5699G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.673G>C MANE Select ENSP00000308369.2:p.Glu225Gln
ENST00000308330.2:c.673G>C ENSP00000308369.2:p.Glu225Gln
ENST00000541171.1:n.687G>C
NM_001167614.1:c.673G>C NP_001161086.1:p.Glu225Gln
NM_014319.4:c.673G>C NP_055134.2:p.Glu225Gln
NM_014319.5:c.673G>C MANE Select NP_055134.2:p.Glu225Gln
NM_001167614.2:c.673G>C NP_001161086.1:p.Glu225Gln
Search 100 bp 5'
Search 100 bp 3'