Canonical Allele Identifier: CA385673412
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170126T>C , CM000674.2:g.65170126T>C GRCh38
NC_000012.11:g.65563906T>C , CM000674.1:g.65563906T>C GRCh37
NC_000012.10:g.63850173T>C NCBI36
NG_016210.1:g.5556T>C
NG_016210.2:g.5556T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.530T>C MANE Select ENSP00000308369.2:p.Leu177Pro
ENST00000308330.2:c.530T>C ENSP00000308369.2:p.Leu177Pro
ENST00000541171.1:n.544T>C
NM_001167614.1:c.530T>C NP_001161086.1:p.Leu177Pro
NM_014319.4:c.530T>C NP_055134.2:p.Leu177Pro
NM_014319.5:c.530T>C MANE Select NP_055134.2:p.Leu177Pro
NM_001167614.2:c.530T>C NP_001161086.1:p.Leu177Pro