Canonical Allele Identifier: CA6671065
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2111454
ClinVar RCV Id: RCV003046001
dbSNP Id: rs747990796
ExAC: 12:65632565 T / C
gnomAD v2: 12-65632565-T-C
gnomAD v4: 12-65238785-T-C
MyVariant Identifiers: chr12:g.65632565T>C (hg19) chr12:g.65238785T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238785T>C , CM000674.2:g.65238785T>C GRCh38
NC_000012.11:g.65632565T>C , CM000674.1:g.65632565T>C GRCh37
NC_000012.10:g.63918832T>C NCBI36
NG_016210.1:g.74215T>C
NG_016210.2:g.74215T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1892T>C MANE Select ENSP00000308369.2:p.Val631Ala
ENST00000308330.2:c.1892T>C ENSP00000308369.2:p.Val631Ala
NM_001167614.1:c.1889T>C NP_001161086.1:p.Val630Ala
NM_014319.4:c.1892T>C NP_055134.2:p.Val631Ala
NM_014319.5:c.1892T>C MANE Select NP_055134.2:p.Val631Ala
NM_001167614.2:c.1889T>C NP_001161086.1:p.Val630Ala
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