Canonical Allele Identifier: CA385671812
Gene: LEMD3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.65633732C>A (hg19) chr12:g.65239952C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65239952C>A , CM000674.2:g.65239952C>A GRCh38
NC_000012.11:g.65633732C>A , CM000674.1:g.65633732C>A GRCh37
NC_000012.10:g.63919999C>A NCBI36
NG_016210.1:g.75382C>A
NG_016210.2:g.75382C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1945C>A MANE Select ENSP00000308369.2:p.Leu649Met
ENST00000308330.2:c.1945C>A ENSP00000308369.2:p.Leu649Met
NM_001167614.1:c.1942C>A NP_001161086.1:p.Leu648Met
NM_014319.4:c.1945C>A NP_055134.2:p.Leu649Met
NM_014319.5:c.1945C>A MANE Select NP_055134.2:p.Leu649Met
NM_001167614.2:c.1942C>A NP_001161086.1:p.Leu648Met
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