Canonical Allele Identifier: CA2042456781
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1041163455
gnomAD v3: 12-65246371-T-A
gnomAD v4: 12-65246371-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246371T>A , CM000674.2:g.65246371T>A GRCh38
NC_000012.11:g.65640151T>A , CM000674.1:g.65640151T>A GRCh37
NC_000012.10:g.63926418T>A NCBI36
NG_016210.1:g.81801T>A
NG_016210.2:g.81801T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.*46T>A MANE Select ENSP00000308369.2:n.*46T>A
ENST00000308330.2:c.*46T>A ENSP00000308369.2:n.*46T>A
ENST00000539442.1:n.764T>A
ENST00000545026.1:n.600T>A
NM_001167614.1:c.*46T>A NP_001161086.1:n.*46T>A
NM_014319.4:c.*46T>A NP_055134.2:n.*46T>A
NM_014319.5:c.*46T>A MANE Select NP_055134.2:n.*46T>A
NM_001167614.2:c.*46T>A NP_001161086.1:n.*46T>A
Search 100 bp 5'
Search 100 bp 3'