Canonical Allele Identifier: CA385671112
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 620578
ClinVar RCV Id: RCV000760966 RCV003314642
dbSNP Id: rs1565799131
gnomAD v4: 12-65238694-G-T
MyVariant Identifiers: chr12:g.65632474G>T (hg19) chr12:g.65238694G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238694G>T , CM000674.2:g.65238694G>T GRCh38
NC_000012.11:g.65632474G>T , CM000674.1:g.65632474G>T GRCh37
NC_000012.10:g.63918741G>T NCBI36
NG_016210.1:g.74124G>T
NG_016210.2:g.74124G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1801G>T MANE Select ENSP00000308369.2:p.Glu601Ter
ENST00000308330.2:c.1801G>T ENSP00000308369.2:p.Glu601Ter
NM_001167614.1:c.1798G>T NP_001161086.1:p.Glu600Ter
NM_014319.4:c.1801G>T NP_055134.2:p.Glu601Ter
NM_014319.5:c.1801G>T MANE Select NP_055134.2:p.Glu601Ter
NM_001167614.2:c.1798G>T NP_001161086.1:p.Glu600Ter
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