Canonical Allele Identifier: CA691018108
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1477955394
gnomAD v4: 12-65246022-T-A
MyVariant Identifiers: chr12:g.65639802T>A (hg19) chr12:g.65246022T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246022T>A , CM000674.2:g.65246022T>A GRCh38
NC_000012.11:g.65639802T>A , CM000674.1:g.65639802T>A GRCh37
NC_000012.10:g.63926069T>A NCBI36
NG_016210.1:g.81452T>A
NG_016210.2:g.81452T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2572+83T>A MANE Select ENSP00000308369.2:n.2572+83T>A
ENST00000308330.2:c.2572+83T>A ENSP00000308369.2:n.2572+83T>A
ENST00000539442.1:n.554+83T>A
ENST00000544506.1:n.292+83T>A
ENST00000545026.1:n.390+83T>A
NM_001167614.1:c.2569+83T>A NP_001161086.1:n.2569+83T>A
NM_014319.4:c.2572+83T>A NP_055134.2:n.2572+83T>A
NM_014319.5:c.2572+83T>A MANE Select NP_055134.2:n.2572+83T>A
NM_001167614.2:c.2569+83T>A NP_001161086.1:n.2569+83T>A
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