Canonical Allele Identifier: CA6671055
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1560419
ClinVar RCV Id: RCV002209148
dbSNP Id: rs767735135
ExAC: 12:65632521 A / G
gnomAD v2: 12-65632521-A-G
gnomAD v4: 12-65238741-A-G
MyVariant Identifiers: chr12:g.65632521A>G (hg19) chr12:g.65238741A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238741A>G , CM000674.2:g.65238741A>G GRCh38
NC_000012.11:g.65632521A>G , CM000674.1:g.65632521A>G GRCh37
NC_000012.10:g.63918788A>G NCBI36
NG_016210.1:g.74171A>G
NG_016210.2:g.74171A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1848A>G MANE Select ENSP00000308369.2:p.Pro616=
ENST00000308330.2:c.1848A>G ENSP00000308369.2:p.Pro616=
NM_001167614.1:c.1845A>G NP_001161086.1:p.Pro615=
NM_014319.4:c.1848A>G NP_055134.2:p.Pro616=
NM_014319.5:c.1848A>G MANE Select NP_055134.2:p.Pro616=
NM_001167614.2:c.1845A>G NP_001161086.1:p.Pro615=
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