Canonical Allele Identifier: CA385670878
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65238507-A-T
MyVariant Identifiers: chr12:g.65632287A>T (hg19) chr12:g.65238507A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238507A>T , CM000674.2:g.65238507A>T GRCh38
NC_000012.11:g.65632287A>T , CM000674.1:g.65632287A>T GRCh37
NC_000012.10:g.63918554A>T NCBI36
NG_016210.1:g.73937A>T
NG_016210.2:g.73937A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1701A>T MANE Select ENSP00000308369.2:p.Leu567Phe
ENST00000308330.2:c.1701A>T ENSP00000308369.2:p.Leu567Phe
NM_001167614.1:c.1698A>T NP_001161086.1:p.Leu566Phe
NM_014319.4:c.1701A>T NP_055134.2:p.Leu567Phe
NM_014319.5:c.1701A>T MANE Select NP_055134.2:p.Leu567Phe
NM_001167614.2:c.1698A>T NP_001161086.1:p.Leu566Phe
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