Canonical Allele Identifier: CA6671058
Gene: LEMD3 HGNC NCBI

Linked Data

dbSNP Id: rs765045080
ExAC: 12:65632541 G / A
gnomAD v2: 12-65632541-G-A
gnomAD v4: 12-65238761-G-A
MyVariant Identifiers: chr12:g.65632541G>A (hg19) chr12:g.65238761G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65238761G>A , CM000674.2:g.65238761G>A GRCh38
NC_000012.11:g.65632541G>A , CM000674.1:g.65632541G>A GRCh37
NC_000012.10:g.63918808G>A NCBI36
NG_016210.1:g.74191G>A
NG_016210.2:g.74191G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.1868G>A MANE Select ENSP00000308369.2:p.Arg623His
ENST00000308330.2:c.1868G>A ENSP00000308369.2:p.Arg623His
NM_001167614.1:c.1865G>A NP_001161086.1:p.Arg622His
NM_014319.4:c.1868G>A NP_055134.2:p.Arg623His
NM_014319.5:c.1868G>A MANE Select NP_055134.2:p.Arg623His
NM_001167614.2:c.1865G>A NP_001161086.1:p.Arg622His
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