Canonical Allele Identifier: CA238915066
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs200189969
gnomAD v3: 12-65238760-C-T
gnomAD v4: 12-65238760-C-T
MyVariant Identifiers: chr12:g.65632540C>T (hg19) chr12:g.65238760C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238760C>T , CM000674.2:g.65238760C>T GRCh38
NC_000012.11:g.65632540C>T , CM000674.1:g.65632540C>T GRCh37
NC_000012.10:g.63918807C>T NCBI36
NG_016210.1:g.74190C>T
NG_016210.2:g.74190C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1867C>T MANE Select ENSP00000308369.2:p.Arg623Cys
ENST00000308330.2:c.1867C>T ENSP00000308369.2:p.Arg623Cys
NM_001167614.1:c.1864C>T NP_001161086.1:p.Arg622Cys
NM_014319.4:c.1867C>T NP_055134.2:p.Arg623Cys
NM_014319.5:c.1867C>T MANE Select NP_055134.2:p.Arg623Cys
NM_001167614.2:c.1864C>T NP_001161086.1:p.Arg622Cys
Search 100 bp 5'
Search 100 bp 3'