Canonical Allele Identifier: CA2575215411
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65240071-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65240071C>T , CM000674.2:g.65240071C>T GRCh38
NC_000012.11:g.65633851C>T , CM000674.1:g.65633851C>T GRCh37
NC_000012.10:g.63920118C>T NCBI36
NG_016210.1:g.75501C>T
NG_016210.2:g.75501C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2023+41C>T MANE Select ENSP00000308369.2:n.2023+41C>T
ENST00000308330.2:c.2023+41C>T ENSP00000308369.2:n.2023+41C>T
NM_001167614.1:c.2020+41C>T NP_001161086.1:n.2020+41C>T
NM_014319.4:c.2023+41C>T NP_055134.2:n.2023+41C>T
NM_014319.5:c.2023+41C>T MANE Select NP_055134.2:n.2023+41C>T
NM_001167614.2:c.2020+41C>T NP_001161086.1:n.2020+41C>T
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