Canonical Allele Identifier: CA6671260
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs542977753
ExAC: 12:65639743 C / T
gnomAD v2: 12-65639743-C-T
gnomAD v3: 12-65245963-C-T
gnomAD v4: 12-65245963-C-T
MyVariant Identifiers: chr12:g.65639743C>T (hg19) chr12:g.65245963C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65245963C>T , CM000674.2:g.65245963C>T GRCh38
NC_000012.11:g.65639743C>T , CM000674.1:g.65639743C>T GRCh37
NC_000012.10:g.63926010C>T NCBI36
NG_016210.1:g.81393C>T
NG_016210.2:g.81393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.2572+24C>T MANE Select ENSP00000308369.2:n.2572+24C>T
ENST00000308330.2:c.2572+24C>T ENSP00000308369.2:n.2572+24C>T
ENST00000539442.1:n.554+24C>T
ENST00000544506.1:n.292+24C>T
ENST00000545026.1:n.390+24C>T
NM_001167614.1:c.2569+24C>T NP_001161086.1:n.2569+24C>T
NM_014319.4:c.2572+24C>T NP_055134.2:n.2572+24C>T
NM_014319.5:c.2572+24C>T MANE Select NP_055134.2:n.2572+24C>T
NM_001167614.2:c.2569+24C>T NP_001161086.1:n.2569+24C>T
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