Canonical Allele Identifier: CA385671037
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238578T>G , CM000674.2:g.65238578T>G GRCh38
NC_000012.11:g.65632358T>G , CM000674.1:g.65632358T>G GRCh37
NC_000012.10:g.63918625T>G NCBI36
NG_016210.1:g.74008T>G
NG_016210.2:g.74008T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1772T>G MANE Select ENSP00000308369.2:p.Ile591Arg
ENST00000308330.2:c.1772T>G ENSP00000308369.2:p.Ile591Arg
NM_001167614.1:c.1769T>G NP_001161086.1:p.Ile590Arg
NM_014319.4:c.1772T>G NP_055134.2:p.Ile591Arg
NM_014319.5:c.1772T>G MANE Select NP_055134.2:p.Ile591Arg
NM_001167614.2:c.1769T>G NP_001161086.1:p.Ile590Arg