Canonical Allele Identifier: CA2042456229

Gene: LEMD3

Linked Data

• dbSNP Id: rs1871094844
• gnomAD v4: 12-65246044-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246044T>G , CM000674.2:g.65246044T>G	GRCh38
NC_000012.11:g.65639824T>G , CM000674.1:g.65639824T>G	GRCh37
NC_000012.10:g.63926091T>G	NCBI36
NG_016210.1:g.81474T>G
NG_016210.2:g.81474T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2572+105T>G MANE Select	ENSP00000308369.2:n.2572+105T>G
ENST00000308330.2:c.2572+105T>G	ENSP00000308369.2:n.2572+105T>G
ENST00000539442.1:n.554+105T>G
ENST00000544506.1:n.292+105T>G
ENST00000545026.1:n.390+105T>G
NM_001167614.1:c.2569+105T>G	NP_001161086.1:n.2569+105T>G
NM_014319.4:c.2572+105T>G	NP_055134.2:n.2572+105T>G
NM_014319.5:c.2572+105T>G MANE Select	NP_055134.2:n.2572+105T>G
NM_001167614.2:c.2569+105T>G	NP_001161086.1:n.2569+105T>G