Canonical Allele Identifier: CA6670644
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310217
ClinVar RCV Id: RCV000307879
dbSNP Id: rs747864180
ExAC: 12:65563371 G / A
gnomAD v2: 12-65563371-G-A
gnomAD v3: 12-65169591-G-A
gnomAD v4: 12-65169591-G-A
MyVariant Identifiers: chr12:g.65563371G>A (hg19) chr12:g.65169591G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65169591G>A , CM000674.2:g.65169591G>A GRCh38
NC_000012.11:g.65563371G>A , CM000674.1:g.65563371G>A GRCh37
NC_000012.10:g.63849638G>A NCBI36
NG_016210.1:g.5021G>A
NG_016210.2:g.5021G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.-6G>A MANE Select ENSP00000308369.2:n.-6G>A
ENST00000308330.2:c.-6G>A ENSP00000308369.2:n.-6G>A
ENST00000541171.1:n.9G>A
NM_001167614.1:c.-6G>A NP_001161086.1:n.-6G>A
NM_014319.4:c.-6G>A NP_055134.2:n.-6G>A
NM_014319.5:c.-6G>A MANE Select NP_055134.2:n.-6G>A
NM_001167614.2:c.-6G>A NP_001161086.1:n.-6G>A
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