Canonical Allele Identifier: CA385670868
Gene: LEMD3 HGNC NCBI

Linked Data

gnomAD v4: 12-65238503-A-G
MyVariant Identifiers: chr12:g.65632283A>G (hg19) chr12:g.65238503A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238503A>G , CM000674.2:g.65238503A>G GRCh38
NC_000012.11:g.65632283A>G , CM000674.1:g.65632283A>G GRCh37
NC_000012.10:g.63918550A>G NCBI36
NG_016210.1:g.73933A>G
NG_016210.2:g.73933A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1697A>G MANE Select ENSP00000308369.2:p.Asp566Gly
ENST00000308330.2:c.1697A>G ENSP00000308369.2:p.Asp566Gly
NM_001167614.1:c.1694A>G NP_001161086.1:p.Asp565Gly
NM_014319.4:c.1697A>G NP_055134.2:p.Asp566Gly
NM_014319.5:c.1697A>G MANE Select NP_055134.2:p.Asp566Gly
NM_001167614.2:c.1694A>G NP_001161086.1:p.Asp565Gly
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