Canonical Allele Identifier: CA385672076
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1478225933
gnomAD v2: 12-65633796-T-C
gnomAD v4: 12-65240016-T-C
MyVariant Identifiers: chr12:g.65633796T>C (hg19) chr12:g.65240016T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65240016T>C , CM000674.2:g.65240016T>C GRCh38
NC_000012.11:g.65633796T>C , CM000674.1:g.65633796T>C GRCh37
NC_000012.10:g.63920063T>C NCBI36
NG_016210.1:g.75446T>C
NG_016210.2:g.75446T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2009T>C MANE Select ENSP00000308369.2:p.Val670Ala
ENST00000308330.2:c.2009T>C ENSP00000308369.2:p.Val670Ala
NM_001167614.1:c.2006T>C NP_001161086.1:p.Val669Ala
NM_014319.4:c.2009T>C NP_055134.2:p.Val670Ala
NM_014319.5:c.2009T>C MANE Select NP_055134.2:p.Val670Ala
NM_001167614.2:c.2006T>C NP_001161086.1:p.Val669Ala
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