Canonical Allele Identifier: CA2573148984

Gene: LEMD3

Linked Data

• ClinVar Variation Id: 1488328
• ClinVar RCV Id: RCV001988524
• dbSNP Id: rs2136358944

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246159C>G , CM000674.2:g.65246159C>G	GRCh38
NC_000012.11:g.65639939C>G , CM000674.1:g.65639939C>G	GRCh37
NC_000012.10:g.63926206C>G	NCBI36
NG_016210.1:g.81589C>G
NG_016210.2:g.81589C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2573-3C>G MANE Select	ENSP00000308369.2:n.2573-3C>G
ENST00000308330.2:c.2573-3C>G	ENSP00000308369.2:n.2573-3C>G
ENST00000539442.1:n.555-3C>G
ENST00000544506.1:n.293-3C>G
ENST00000545026.1:n.391-3C>G
NM_001167614.1:c.2570-3C>G	NP_001161086.1:n.2570-3C>G
NM_014319.4:c.2573-3C>G	NP_055134.2:n.2573-3C>G
NM_014319.5:c.2573-3C>G MANE Select	NP_055134.2:n.2573-3C>G
NM_001167614.2:c.2570-3C>G	NP_001161086.1:n.2570-3C>G