Canonical Allele Identifier: CA2575215503
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65245982-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65245982T>G , CM000674.2:g.65245982T>G GRCh38
NC_000012.11:g.65639762T>G , CM000674.1:g.65639762T>G GRCh37
NC_000012.10:g.63926029T>G NCBI36
NG_016210.1:g.81412T>G
NG_016210.2:g.81412T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2572+43T>G MANE Select ENSP00000308369.2:n.2572+43T>G
ENST00000308330.2:c.2572+43T>G ENSP00000308369.2:n.2572+43T>G
ENST00000539442.1:n.554+43T>G
ENST00000544506.1:n.292+43T>G
ENST00000545026.1:n.390+43T>G
NM_001167614.1:c.2569+43T>G NP_001161086.1:n.2569+43T>G
NM_014319.4:c.2572+43T>G NP_055134.2:n.2572+43T>G
NM_014319.5:c.2572+43T>G MANE Select NP_055134.2:n.2572+43T>G
NM_001167614.2:c.2569+43T>G NP_001161086.1:n.2569+43T>G
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