Canonical Allele Identifier: CA385671226
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1966074
ClinVar RCV Id: RCV002711576

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238746T>C , CM000674.2:g.65238746T>C GRCh38
NC_000012.11:g.65632526T>C , CM000674.1:g.65632526T>C GRCh37
NC_000012.10:g.63918793T>C NCBI36
NG_016210.1:g.74176T>C
NG_016210.2:g.74176T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1853T>C MANE Select ENSP00000308369.2:p.Met618Thr
ENST00000308330.2:c.1853T>C ENSP00000308369.2:p.Met618Thr
NM_001167614.1:c.1850T>C NP_001161086.1:p.Met617Thr
NM_014319.4:c.1853T>C NP_055134.2:p.Met618Thr
NM_014319.5:c.1853T>C MANE Select NP_055134.2:p.Met618Thr
NM_001167614.2:c.1850T>C NP_001161086.1:p.Met617Thr