Canonical Allele Identifier: CA6670713
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310220
ClinVar RCV Id: RCV000367921 RCV002056328
dbSNP Id: rs530591432
ExAC: 12:65563721 A / G
gnomAD v2: 12-65563721-A-G
gnomAD v3: 12-65169941-A-G
gnomAD v4: 12-65169941-A-G
MyVariant Identifiers: chr12:g.65563721A>G (hg19) chr12:g.65169941A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65169941A>G , CM000674.2:g.65169941A>G GRCh38
NC_000012.11:g.65563721A>G , CM000674.1:g.65563721A>G GRCh37
NC_000012.10:g.63849988A>G NCBI36
NG_016210.1:g.5371A>G
NG_016210.2:g.5371A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.345A>G MANE Select ENSP00000308369.2:p.Pro115=
ENST00000308330.2:c.345A>G ENSP00000308369.2:p.Pro115=
ENST00000541171.1:n.359A>G
NM_001167614.1:c.345A>G NP_001161086.1:p.Pro115=
NM_014319.4:c.345A>G NP_055134.2:p.Pro115=
NM_014319.5:c.345A>G MANE Select NP_055134.2:p.Pro115=
NM_001167614.2:c.345A>G NP_001161086.1:p.Pro115=
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