Canonical Allele Identifier: CA385671093
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238686C>A , CM000674.2:g.65238686C>A GRCh38
NC_000012.11:g.65632466C>A , CM000674.1:g.65632466C>A GRCh37
NC_000012.10:g.63918733C>A NCBI36
NG_016210.1:g.74116C>A
NG_016210.2:g.74116C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1793C>A MANE Select ENSP00000308369.2:p.Pro598His
ENST00000308330.2:c.1793C>A ENSP00000308369.2:p.Pro598His
NM_001167614.1:c.1790C>A NP_001161086.1:p.Pro597His
NM_014319.4:c.1793C>A NP_055134.2:p.Pro598His
NM_014319.5:c.1793C>A MANE Select NP_055134.2:p.Pro598His
NM_001167614.2:c.1790C>A NP_001161086.1:p.Pro597His