Canonical Allele Identifier: CA385673519
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65170176-C-A
MyVariant Identifiers: chr12:g.65563956C>A (hg19) chr12:g.65170176C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170176C>A , CM000674.2:g.65170176C>A GRCh38
NC_000012.11:g.65563956C>A , CM000674.1:g.65563956C>A GRCh37
NC_000012.10:g.63850223C>A NCBI36
NG_016210.1:g.5606C>A
NG_016210.2:g.5606C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.580C>A MANE Select ENSP00000308369.2:p.His194Asn
ENST00000308330.2:c.580C>A ENSP00000308369.2:p.His194Asn
ENST00000541171.1:n.594C>A
NM_001167614.1:c.580C>A NP_001161086.1:p.His194Asn
NM_014319.4:c.580C>A NP_055134.2:p.His194Asn
NM_014319.5:c.580C>A MANE Select NP_055134.2:p.His194Asn
NM_001167614.2:c.580C>A NP_001161086.1:p.His194Asn
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