Canonical Allele Identifier: CA6670797
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 287374
ClinVar RCV Id: RCV000260227 RCV000406278 RCV000906602
dbSNP Id: rs35221558
ExAC: 12:65564283 G / T
gnomAD v2: 12-65564283-G-T
gnomAD v3: 12-65170503-G-T
gnomAD v4: 12-65170503-G-T
MyVariant Identifiers: chr12:g.65564283G>T (hg19) chr12:g.65170503G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170503G>T , CM000674.2:g.65170503G>T GRCh38
NC_000012.11:g.65564283G>T , CM000674.1:g.65564283G>T GRCh37
NC_000012.10:g.63850550G>T NCBI36
NG_016210.1:g.5933G>T
NG_016210.2:g.5933G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.907G>T MANE Select ENSP00000308369.2:p.Gly303Cys
ENST00000308330.2:c.907G>T ENSP00000308369.2:p.Gly303Cys
ENST00000541171.1:n.836+85G>T
NM_001167614.1:c.907G>T NP_001161086.1:p.Gly303Cys
NM_014319.4:c.907G>T NP_055134.2:p.Gly303Cys
NM_014319.5:c.907G>T MANE Select NP_055134.2:p.Gly303Cys
NM_001167614.2:c.907G>T NP_001161086.1:p.Gly303Cys
Search 100 bp 5'
Search 100 bp 3'