Canonical Allele Identifier: CA2042444151
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs763479026
gnomAD v4: 12-65238473-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238473T>A , CM000674.2:g.65238473T>A GRCh38
NC_000012.11:g.65632253T>A , CM000674.1:g.65632253T>A GRCh37
NC_000012.10:g.63918520T>A NCBI36
NG_016210.1:g.73903T>A
NG_016210.2:g.73903T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1696-29T>A MANE Select ENSP00000308369.2:n.1696-29T>A
ENST00000308330.2:c.1696-29T>A ENSP00000308369.2:n.1696-29T>A
NM_001167614.1:c.1693-29T>A NP_001161086.1:n.1693-29T>A
NM_014319.4:c.1696-29T>A NP_055134.2:n.1696-29T>A
NM_014319.5:c.1696-29T>A MANE Select NP_055134.2:n.1696-29T>A
NM_001167614.2:c.1693-29T>A NP_001161086.1:n.1693-29T>A
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