Canonical Allele Identifier: CA6671000
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310237
ClinVar RCV Id: RCV000300317 RCV001516225
dbSNP Id: rs6581621
ExAC: 12:65612407 A / G
gnomAD v2: 12-65612407-A-G
gnomAD v3: 12-65218627-A-G
gnomAD v4: 12-65218627-A-G
MyVariant Identifiers: chr12:g.65612407A>G (hg19) chr12:g.65218627A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65218627A>G , CM000674.2:g.65218627A>G GRCh38
NC_000012.11:g.65612407A>G , CM000674.1:g.65612407A>G GRCh37
NC_000012.10:g.63898674A>G NCBI36
NG_016210.1:g.54057A>G
NG_016210.2:g.54057A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1695+8A>G MANE Select ENSP00000308369.2:n.1695+8A>G
ENST00000308330.2:c.1695+8A>G ENSP00000308369.2:n.1695+8A>G
NM_001167614.1:c.1692+8A>G NP_001161086.1:n.1692+8A>G
NM_014319.4:c.1695+8A>G NP_055134.2:n.1695+8A>G
NM_014319.5:c.1695+8A>G MANE Select NP_055134.2:n.1695+8A>G
NM_001167614.2:c.1692+8A>G NP_001161086.1:n.1692+8A>G
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