Canonical Allele Identifier: CA238909575
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs996517604
gnomAD v3: 12-65188416-C-A
gnomAD v4: 12-65188416-C-A
MyVariant Identifiers: chr12:g.65582196C>A (hg19) chr12:g.65188416C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65188416C>A , CM000674.2:g.65188416C>A GRCh38
NC_000012.11:g.65582196C>A , CM000674.1:g.65582196C>A GRCh37
NC_000012.10:g.63868463C>A NCBI36
NG_016210.1:g.23846C>A
NG_016210.2:g.23846C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.1522+17298C>A MANE Select ENSP00000308369.2:n.1522+17298C>A
ENST00000308330.2:c.1522+17298C>A ENSP00000308369.2:n.1522+17298C>A
ENST00000541171.1:n.836+17998C>A
NM_001167614.1:c.1522+17298C>A NP_001161086.1:n.1522+17298C>A
NM_014319.4:c.1522+17298C>A NP_055134.2:n.1522+17298C>A
NM_014319.5:c.1522+17298C>A MANE Select NP_055134.2:n.1522+17298C>A
NM_001167614.2:c.1522+17298C>A NP_001161086.1:n.1522+17298C>A
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