Canonical Allele Identifier: CA2575215504
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65245987-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65245987T>A , CM000674.2:g.65245987T>A GRCh38
NC_000012.11:g.65639767T>A , CM000674.1:g.65639767T>A GRCh37
NC_000012.10:g.63926034T>A NCBI36
NG_016210.1:g.81417T>A
NG_016210.2:g.81417T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2572+48T>A MANE Select ENSP00000308369.2:n.2572+48T>A
ENST00000308330.2:c.2572+48T>A ENSP00000308369.2:n.2572+48T>A
ENST00000539442.1:n.554+48T>A
ENST00000544506.1:n.292+48T>A
ENST00000545026.1:n.390+48T>A
NM_001167614.1:c.2569+48T>A NP_001161086.1:n.2569+48T>A
NM_014319.4:c.2572+48T>A NP_055134.2:n.2572+48T>A
NM_014319.5:c.2572+48T>A MANE Select NP_055134.2:n.2572+48T>A
NM_001167614.2:c.2569+48T>A NP_001161086.1:n.2569+48T>A
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