Canonical Allele Identifier: CA238907671
Gene: LEMD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2897122
ClinVar RCV Id: RCV003733293
dbSNP Id: rs979203960
gnomAD v2: 12-65563667-C-T
gnomAD v3: 12-65169887-C-T
gnomAD v4: 12-65169887-C-T
MyVariant Identifiers: chr12:g.65563667C>T (hg19) chr12:g.65169887C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65169887C>T , CM000674.2:g.65169887C>T GRCh38
NC_000012.11:g.65563667C>T , CM000674.1:g.65563667C>T GRCh37
NC_000012.10:g.63849934C>T NCBI36
NG_016210.1:g.5317C>T
NG_016210.2:g.5317C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308330.3:c.291C>T MANE Select ENSP00000308369.2:p.Asp97=
ENST00000308330.2:c.291C>T ENSP00000308369.2:p.Asp97=
ENST00000541171.1:n.305C>T
NM_001167614.1:c.291C>T NP_001161086.1:p.Asp97=
NM_014319.4:c.291C>T NP_055134.2:p.Asp97=
NM_014319.5:c.291C>T MANE Select NP_055134.2:p.Asp97=
NM_001167614.2:c.291C>T NP_001161086.1:p.Asp97=
Search 100 bp 5'
Search 100 bp 3'