Canonical Allele Identifier: CA238915751
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1041163455
gnomAD v4: 12-65246371-T-C
MyVariant Identifiers: chr12:g.65640151T>C (hg19) chr12:g.65246371T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246371T>C , CM000674.2:g.65246371T>C GRCh38
NC_000012.11:g.65640151T>C , CM000674.1:g.65640151T>C GRCh37
NC_000012.10:g.63926418T>C NCBI36
NG_016210.1:g.81801T>C
NG_016210.2:g.81801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.*46T>C MANE Select ENSP00000308369.2:n.*46T>C
ENST00000308330.2:c.*46T>C ENSP00000308369.2:n.*46T>C
ENST00000539442.1:n.764T>C
ENST00000545026.1:n.600T>C
NM_001167614.1:c.*46T>C NP_001161086.1:n.*46T>C
NM_014319.4:c.*46T>C NP_055134.2:n.*46T>C
NM_014319.5:c.*46T>C MANE Select NP_055134.2:n.*46T>C
NM_001167614.2:c.*46T>C NP_001161086.1:n.*46T>C
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