Canonical Allele Identifier: CA385671228
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238747G>T , CM000674.2:g.65238747G>T GRCh38
NC_000012.11:g.65632527G>T , CM000674.1:g.65632527G>T GRCh37
NC_000012.10:g.63918794G>T NCBI36
NG_016210.1:g.74177G>T
NG_016210.2:g.74177G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1854G>T MANE Select ENSP00000308369.2:p.Met618Ile
ENST00000308330.2:c.1854G>T ENSP00000308369.2:p.Met618Ile
NM_001167614.1:c.1851G>T NP_001161086.1:p.Met617Ile
NM_014319.4:c.1854G>T NP_055134.2:p.Met618Ile
NM_014319.5:c.1854G>T MANE Select NP_055134.2:p.Met618Ile
NM_001167614.2:c.1851G>T NP_001161086.1:p.Met617Ile