Canonical Allele Identifier: CA480743711
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65170145-T-A
MyVariant Identifiers: chr12:g.65563925T>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170145T>A , CM000674.2:g.65170145T>A GRCh38
NC_000012.11:g.65563925T>A , CM000674.1:g.65563925T>A GRCh37
NC_000012.10:g.63850192T>A NCBI36
NG_016210.1:g.5575T>A
NG_016210.2:g.5575T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.549T>A MANE Select ENSP00000308369.2:p.Thr183=
ENST00000308330.2:c.549T>A ENSP00000308369.2:p.Thr183=
ENST00000541171.1:n.563T>A
NM_001167614.1:c.549T>A NP_001161086.1:p.Thr183=
NM_014319.4:c.549T>A NP_055134.2:p.Thr183=
NM_014319.5:c.549T>A MANE Select NP_055134.2:p.Thr183=
NM_001167614.2:c.549T>A NP_001161086.1:p.Thr183=
Search 100 bp 5'
Search 100 bp 3'