Canonical Allele Identifier: CA2042444468
Gene: LEMD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238680T= , CM000674.2:g.65238680T= GRCh38
NC_000012.11:g.65632460T= , CM000674.1:g.65632460T= GRCh37
NC_000012.10:g.63918727T= NCBI36
NG_016210.1:g.74110T=
NG_016210.2:g.74110T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1787T= MANE Select ENSP00000308369.2:p.Phe596=
ENST00000308330.2:c.1787T= ENSP00000308369.2:p.Phe596=
NM_001167614.1:c.1784T= NP_001161086.1:p.Phe595=
NM_014319.4:c.1787T= NP_055134.2:p.Phe596=
NM_014319.5:c.1787T= MANE Select NP_055134.2:p.Phe596=
NM_001167614.2:c.1784T= NP_001161086.1:p.Phe595=