Canonical Allele Identifier: CA385673375
Gene: LEMD3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170107A>C , CM000674.2:g.65170107A>C GRCh38
NC_000012.11:g.65563887A>C , CM000674.1:g.65563887A>C GRCh37
NC_000012.10:g.63850154A>C NCBI36
NG_016210.1:g.5537A>C
NG_016210.2:g.5537A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.511A>C MANE Select ENSP00000308369.2:p.Lys171Gln
ENST00000308330.2:c.511A>C ENSP00000308369.2:p.Lys171Gln
ENST00000541171.1:n.525A>C
NM_001167614.1:c.511A>C NP_001161086.1:p.Lys171Gln
NM_014319.4:c.511A>C NP_055134.2:p.Lys171Gln
NM_014319.5:c.511A>C MANE Select NP_055134.2:p.Lys171Gln
NM_001167614.2:c.511A>C NP_001161086.1:p.Lys171Gln