Canonical Allele Identifier: CA10638383
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310223
ClinVar RCV Id: RCV001850637
dbSNP Id: rs886049775
gnomAD v2: 12-65563756-C-T
gnomAD v3: 12-65169976-C-T
gnomAD v4: 12-65169976-C-T
MyVariant Identifiers: chr12:g.65563756C>T (hg19) chr12:g.65169976C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65169976C>T , CM000674.2:g.65169976C>T GRCh38
NC_000012.11:g.65563756C>T , CM000674.1:g.65563756C>T GRCh37
NC_000012.10:g.63850023C>T NCBI36
NG_016210.1:g.5406C>T
NG_016210.2:g.5406C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.380C>T MANE Select ENSP00000308369.2:p.Ala127Val
ENST00000308330.2:c.380C>T ENSP00000308369.2:p.Ala127Val
ENST00000541171.1:n.394C>T
NM_001167614.1:c.380C>T NP_001161086.1:p.Ala127Val
NM_014319.4:c.380C>T NP_055134.2:p.Ala127Val
NM_014319.5:c.380C>T MANE Select NP_055134.2:p.Ala127Val
NM_001167614.2:c.380C>T NP_001161086.1:p.Ala127Val
Search 100 bp 5'
Search 100 bp 3'