Canonical Allele Identifier: CA6671277
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 310242
ClinVar RCV Id: RCV000264051 RCV000967278
dbSNP Id: rs17101179
ExAC: 12:65640027 G / A
gnomAD v2: 12-65640027-G-A
gnomAD v3: 12-65246247-G-A
gnomAD v4: 12-65246247-G-A
MyVariant Identifiers: chr12:g.65640027G>A (hg19) chr12:g.65246247G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65246247G>A , CM000674.2:g.65246247G>A GRCh38
NC_000012.11:g.65640027G>A , CM000674.1:g.65640027G>A GRCh37
NC_000012.10:g.63926294G>A NCBI36
NG_016210.1:g.81677G>A
NG_016210.2:g.81677G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000308330.3:c.2658G>A MANE Select ENSP00000308369.2:p.Lys886=
ENST00000308330.2:c.2658G>A ENSP00000308369.2:p.Lys886=
ENST00000539442.1:n.640G>A
ENST00000544506.1:n.378G>A
ENST00000545026.1:n.476G>A
NM_001167614.1:c.2655G>A NP_001161086.1:p.Lys885=
NM_014319.4:c.2658G>A NP_055134.2:p.Lys886=
NM_014319.5:c.2658G>A MANE Select NP_055134.2:p.Lys886=
NM_001167614.2:c.2655G>A NP_001161086.1:p.Lys885=
Search 100 bp 5'
Search 100 bp 3'