Canonical Allele Identifier: CA6671126
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs199542833
ExAC: 12:65633955 A / G
gnomAD v3: 12-65240175-A-G
gnomAD v4: 12-65240175-A-G
MyVariant Identifiers: chr12:g.65633955A>G (hg19) chr12:g.65240175A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65240175A>G , CM000674.2:g.65240175A>G GRCh38
NC_000012.11:g.65633955A>G , CM000674.1:g.65633955A>G GRCh37
NC_000012.10:g.63920222A>G NCBI36
NG_016210.1:g.75605A>G
NG_016210.2:g.75605A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2063A>G MANE Select ENSP00000308369.2:p.Lys688Arg
ENST00000308330.2:c.2063A>G ENSP00000308369.2:p.Lys688Arg
NM_001167614.1:c.2060A>G NP_001161086.1:p.Lys687Arg
NM_014319.4:c.2063A>G NP_055134.2:p.Lys688Arg
NM_014319.5:c.2063A>G MANE Select NP_055134.2:p.Lys688Arg
NM_001167614.2:c.2060A>G NP_001161086.1:p.Lys687Arg
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