Canonical Allele Identifier: CA6671066
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 749624
ClinVar RCV Id: RCV000926522
dbSNP Id: rs200578207
ExAC: 12:65632572 C / T
gnomAD v2: 12-65632572-C-T
gnomAD v3: 12-65238792-C-T
gnomAD v4: 12-65238792-C-T
MyVariant Identifiers: chr12:g.65632572C>T (hg19) chr12:g.65238792C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238792C>T , CM000674.2:g.65238792C>T GRCh38
NC_000012.11:g.65632572C>T , CM000674.1:g.65632572C>T GRCh37
NC_000012.10:g.63918839C>T NCBI36
NG_016210.1:g.74222C>T
NG_016210.2:g.74222C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1899C>T MANE Select ENSP00000308369.2:p.His633=
ENST00000308330.2:c.1899C>T ENSP00000308369.2:p.His633=
NM_001167614.1:c.1896C>T NP_001161086.1:p.His632=
NM_014319.4:c.1899C>T NP_055134.2:p.His633=
NM_014319.5:c.1899C>T MANE Select NP_055134.2:p.His633=
NM_001167614.2:c.1896C>T NP_001161086.1:p.His632=
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