Canonical Allele Identifier: CA238909580

Gene: LEMD3

Linked Data

• dbSNP Id: rs1009308774
• gnomAD v2: 12-65582258-A-G
• gnomAD v3: 12-65188478-A-G
• gnomAD v4: 12-65188478-A-G
• MyVariant Identifiers: chr12:g.65582258A>G (hg19) ; chr12:g.65188478A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65188478A>G , CM000674.2:g.65188478A>G	GRCh38
NC_000012.11:g.65582258A>G , CM000674.1:g.65582258A>G	GRCh37
NC_000012.10:g.63868525A>G	NCBI36
NG_016210.1:g.23908A>G
NG_016210.2:g.23908A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000308330.3:c.1522+17360A>G MANE Select	ENSP00000308369.2:n.1522+17360A>G
ENST00000308330.2:c.1522+17360A>G	ENSP00000308369.2:n.1522+17360A>G
ENST00000541171.1:n.836+18060A>G
NM_001167614.1:c.1522+17360A>G	NP_001161086.1:n.1522+17360A>G
NM_014319.4:c.1522+17360A>G	NP_055134.2:n.1522+17360A>G
NM_014319.5:c.1522+17360A>G MANE Select	NP_055134.2:n.1522+17360A>G
NM_001167614.2:c.1522+17360A>G	NP_001161086.1:n.1522+17360A>G