Canonical Allele Identifier: CA385673388
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170113C>G , CM000674.2:g.65170113C>G GRCh38
NC_000012.11:g.65563893C>G , CM000674.1:g.65563893C>G GRCh37
NC_000012.10:g.63850160C>G NCBI36
NG_016210.1:g.5543C>G
NG_016210.2:g.5543C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.517C>G MANE Select ENSP00000308369.2:p.Pro173Ala
ENST00000308330.2:c.517C>G ENSP00000308369.2:p.Pro173Ala
ENST00000541171.1:n.531C>G
NM_001167614.1:c.517C>G NP_001161086.1:p.Pro173Ala
NM_014319.4:c.517C>G NP_055134.2:p.Pro173Ala
NM_014319.5:c.517C>G MANE Select NP_055134.2:p.Pro173Ala
NM_001167614.2:c.517C>G NP_001161086.1:p.Pro173Ala