Canonical Allele Identifier: CA948623280
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1870843072
gnomAD v3: 12-65238653-A-C
gnomAD v4: 12-65238653-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238653A>C , CM000674.2:g.65238653A>C GRCh38
NC_000012.11:g.65632433A>C , CM000674.1:g.65632433A>C GRCh37
NC_000012.10:g.63918700A>C NCBI36
NG_016210.1:g.74083A>C
NG_016210.2:g.74083A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1776-16A>C MANE Select ENSP00000308369.2:n.1776-16A>C
ENST00000308330.2:c.1776-16A>C ENSP00000308369.2:n.1776-16A>C
NM_001167614.1:c.1773-16A>C NP_001161086.1:n.1773-16A>C
NM_014319.4:c.1776-16A>C NP_055134.2:n.1776-16A>C
NM_014319.5:c.1776-16A>C MANE Select NP_055134.2:n.1776-16A>C
NM_001167614.2:c.1773-16A>C NP_001161086.1:n.1773-16A>C
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