Canonical Allele Identifier: CA480743617
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2022627
ClinVar RCV Id: RCV002875650
gnomAD v4: 12-65170121-G-T
MyVariant Identifiers: chr12:g.65563901G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65170121G>T , CM000674.2:g.65170121G>T GRCh38
NC_000012.11:g.65563901G>T , CM000674.1:g.65563901G>T GRCh37
NC_000012.10:g.63850168G>T NCBI36
NG_016210.1:g.5551G>T
NG_016210.2:g.5551G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.525G>T MANE Select ENSP00000308369.2:p.Ala175=
ENST00000308330.2:c.525G>T ENSP00000308369.2:p.Ala175=
ENST00000541171.1:n.539G>T
NM_001167614.1:c.525G>T NP_001161086.1:p.Ala175=
NM_014319.4:c.525G>T NP_055134.2:p.Ala175=
NM_014319.5:c.525G>T MANE Select NP_055134.2:p.Ala175=
NM_001167614.2:c.525G>T NP_001161086.1:p.Ala175=
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