Canonical Allele Identifier: CA385671319
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1221251054
gnomAD v2: 12-65632570-C-T
gnomAD v3: 12-65238790-C-T
gnomAD v4: 12-65238790-C-T
MyVariant Identifiers: chr12:g.65632570C>T (hg19) chr12:g.65238790C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238790C>T , CM000674.2:g.65238790C>T GRCh38
NC_000012.11:g.65632570C>T , CM000674.1:g.65632570C>T GRCh37
NC_000012.10:g.63918837C>T NCBI36
NG_016210.1:g.74220C>T
NG_016210.2:g.74220C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1897C>T MANE Select ENSP00000308369.2:p.His633Tyr
ENST00000308330.2:c.1897C>T ENSP00000308369.2:p.His633Tyr
NM_001167614.1:c.1894C>T NP_001161086.1:p.His632Tyr
NM_014319.4:c.1897C>T NP_055134.2:p.His633Tyr
NM_014319.5:c.1897C>T MANE Select NP_055134.2:p.His633Tyr
NM_001167614.2:c.1894C>T NP_001161086.1:p.His632Tyr
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