Canonical Allele Identifier: CA385673499
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1251680024
gnomAD v2: 12-65563948-G-A
gnomAD v4: 12-65170168-G-A
MyVariant Identifiers: chr12:g.65563948G>A (hg19) chr12:g.65170168G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170168G>A , CM000674.2:g.65170168G>A GRCh38
NC_000012.11:g.65563948G>A , CM000674.1:g.65563948G>A GRCh37
NC_000012.10:g.63850215G>A NCBI36
NG_016210.1:g.5598G>A
NG_016210.2:g.5598G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.572G>A MANE Select ENSP00000308369.2:p.Arg191Lys
ENST00000308330.2:c.572G>A ENSP00000308369.2:p.Arg191Lys
ENST00000541171.1:n.586G>A
NM_001167614.1:c.572G>A NP_001161086.1:p.Arg191Lys
NM_014319.4:c.572G>A NP_055134.2:p.Arg191Lys
NM_014319.5:c.572G>A MANE Select NP_055134.2:p.Arg191Lys
NM_001167614.2:c.572G>A NP_001161086.1:p.Arg191Lys
Search 100 bp 5'
Search 100 bp 3'