Canonical Allele Identifier: CA2598240318
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs2136354548
gnomAD v3: 12-65239874-T-C
gnomAD v4: 12-65239874-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239874T>C , CM000674.2:g.65239874T>C GRCh38
NC_000012.11:g.65633654T>C , CM000674.1:g.65633654T>C GRCh37
NC_000012.10:g.63919921T>C NCBI36
NG_016210.1:g.75304T>C
NG_016210.2:g.75304T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.1922-55T>C MANE Select ENSP00000308369.2:n.1922-55T>C
ENST00000308330.2:c.1922-55T>C ENSP00000308369.2:n.1922-55T>C
NM_001167614.1:c.1919-55T>C NP_001161086.1:n.1919-55T>C
NM_014319.4:c.1922-55T>C NP_055134.2:n.1922-55T>C
NM_014319.5:c.1922-55T>C MANE Select NP_055134.2:n.1922-55T>C
NM_001167614.2:c.1919-55T>C NP_001161086.1:n.1919-55T>C
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