Canonical Allele Identifier: CA6671293
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs779756206
ExAC: 12:65640109 G / T
gnomAD v2: 12-65640109-G-T
gnomAD v3: 12-65246329-G-T
gnomAD v4: 12-65246329-G-T
MyVariant Identifiers: chr12:g.65640109G>T (hg19) chr12:g.65246329G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246329G>T , CM000674.2:g.65246329G>T GRCh38
NC_000012.11:g.65640109G>T , CM000674.1:g.65640109G>T GRCh37
NC_000012.10:g.63926376G>T NCBI36
NG_016210.1:g.81759G>T
NG_016210.2:g.81759G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.*4G>T MANE Select ENSP00000308369.2:n.*4G>T
ENST00000308330.2:c.*4G>T ENSP00000308369.2:n.*4G>T
ENST00000539442.1:n.722G>T
ENST00000545026.1:n.558G>T
NM_001167614.1:c.*4G>T NP_001161086.1:n.*4G>T
NM_014319.4:c.*4G>T NP_055134.2:n.*4G>T
NM_014319.5:c.*4G>T MANE Select NP_055134.2:n.*4G>T
NM_001167614.2:c.*4G>T NP_001161086.1:n.*4G>T
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