Canonical Allele Identifier: CA385671861
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239964A>C , CM000674.2:g.65239964A>C GRCh38
NC_000012.11:g.65633744A>C , CM000674.1:g.65633744A>C GRCh37
NC_000012.10:g.63920011A>C NCBI36
NG_016210.1:g.75394A>C
NG_016210.2:g.75394A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1957A>C MANE Select ENSP00000308369.2:p.Lys653Gln
ENST00000308330.2:c.1957A>C ENSP00000308369.2:p.Lys653Gln
NM_001167614.1:c.1954A>C NP_001161086.1:p.Lys652Gln
NM_014319.4:c.1957A>C NP_055134.2:p.Lys653Gln
NM_014319.5:c.1957A>C MANE Select NP_055134.2:p.Lys653Gln
NM_001167614.2:c.1954A>C NP_001161086.1:p.Lys652Gln