Canonical Allele Identifier: CA385671222
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238745A>G , CM000674.2:g.65238745A>G GRCh38
NC_000012.11:g.65632525A>G , CM000674.1:g.65632525A>G GRCh37
NC_000012.10:g.63918792A>G NCBI36
NG_016210.1:g.74175A>G
NG_016210.2:g.74175A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1852A>G MANE Select ENSP00000308369.2:p.Met618Val
ENST00000308330.2:c.1852A>G ENSP00000308369.2:p.Met618Val
NM_001167614.1:c.1849A>G NP_001161086.1:p.Met617Val
NM_014319.4:c.1852A>G NP_055134.2:p.Met618Val
NM_014319.5:c.1852A>G MANE Select NP_055134.2:p.Met618Val
NM_001167614.2:c.1849A>G NP_001161086.1:p.Met617Val