Canonical Allele Identifier: CA691018115

Gene: LEMD3

Linked Data

• dbSNP Id: rs1191959587
• gnomAD v3: 12-65246031-G-A
• gnomAD v4: 12-65246031-G-A
• MyVariant Identifiers: chr12:g.65639811G>A (hg19) ; chr12:g.65246031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246031G>A , CM000674.2:g.65246031G>A	GRCh38
NC_000012.11:g.65639811G>A , CM000674.1:g.65639811G>A	GRCh37
NC_000012.10:g.63926078G>A	NCBI36
NG_016210.1:g.81461G>A
NG_016210.2:g.81461G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2572+92G>A MANE Select	ENSP00000308369.2:n.2572+92G>A
ENST00000308330.2:c.2572+92G>A	ENSP00000308369.2:n.2572+92G>A
ENST00000539442.1:n.554+92G>A
ENST00000544506.1:n.292+92G>A
ENST00000545026.1:n.390+92G>A
NM_001167614.1:c.2569+92G>A	NP_001161086.1:n.2569+92G>A
NM_014319.4:c.2572+92G>A	NP_055134.2:n.2572+92G>A
NM_014319.5:c.2572+92G>A MANE Select	NP_055134.2:n.2572+92G>A
NM_001167614.2:c.2569+92G>A	NP_001161086.1:n.2569+92G>A