Canonical Allele Identifier: CA948616004
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1869134564
gnomAD v3: 12-65188456-G-A
gnomAD v4: 12-65188456-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65188456G>A , CM000674.2:g.65188456G>A GRCh38
NC_000012.11:g.65582236G>A , CM000674.1:g.65582236G>A GRCh37
NC_000012.10:g.63868503G>A NCBI36
NG_016210.1:g.23886G>A
NG_016210.2:g.23886G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.1522+17338G>A MANE Select ENSP00000308369.2:n.1522+17338G>A
ENST00000308330.2:c.1522+17338G>A ENSP00000308369.2:n.1522+17338G>A
ENST00000541171.1:n.836+18038G>A
NM_001167614.1:c.1522+17338G>A NP_001161086.1:n.1522+17338G>A
NM_014319.4:c.1522+17338G>A NP_055134.2:n.1522+17338G>A
NM_014319.5:c.1522+17338G>A MANE Select NP_055134.2:n.1522+17338G>A
NM_001167614.2:c.1522+17338G>A NP_001161086.1:n.1522+17338G>A
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