Canonical Allele Identifier: CA385672863
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2270664
ClinVar RCV Id: RCV002809635
gnomAD v4: 12-65169978-G-T
MyVariant Identifiers: chr12:g.65563758G>T (hg19) chr12:g.65169978G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65169978G>T , CM000674.2:g.65169978G>T GRCh38
NC_000012.11:g.65563758G>T , CM000674.1:g.65563758G>T GRCh37
NC_000012.10:g.63850025G>T NCBI36
NG_016210.1:g.5408G>T
NG_016210.2:g.5408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.382G>T MANE Select ENSP00000308369.2:p.Ala128Ser
ENST00000308330.2:c.382G>T ENSP00000308369.2:p.Ala128Ser
ENST00000541171.1:n.396G>T
NM_001167614.1:c.382G>T NP_001161086.1:p.Ala128Ser
NM_014319.4:c.382G>T NP_055134.2:p.Ala128Ser
NM_014319.5:c.382G>T MANE Select NP_055134.2:p.Ala128Ser
NM_001167614.2:c.382G>T NP_001161086.1:p.Ala128Ser
Search 100 bp 5'
Search 100 bp 3'