Canonical Allele Identifier: CA6671084

Gene: LEMD3

Linked Data

• ClinVar Variation Id: 1981098
• ClinVar RCV Id: RCV002780413
• dbSNP Id: rs202030550
• ExAC: 12:65633736 G / A
• gnomAD v2: 12-65633736-G-A
• gnomAD v3: 12-65239956-G-A
• gnomAD v4: 12-65239956-G-A
• MyVariant Identifiers: chr12:g.65633736G>A (hg19) ; chr12:g.65239956G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65239956G>A , CM000674.2:g.65239956G>A	GRCh38
NC_000012.11:g.65633736G>A , CM000674.1:g.65633736G>A	GRCh37
NC_000012.10:g.63920003G>A	NCBI36
NG_016210.1:g.75386G>A
NG_016210.2:g.75386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.1949G>A MANE Select	ENSP00000308369.2:p.Arg650His
ENST00000308330.2:c.1949G>A	ENSP00000308369.2:p.Arg650His
NM_001167614.1:c.1946G>A	NP_001161086.1:p.Arg649His
NM_014319.4:c.1949G>A	NP_055134.2:p.Arg650His
NM_014319.5:c.1949G>A MANE Select	NP_055134.2:p.Arg650His
NM_001167614.2:c.1946G>A	NP_001161086.1:p.Arg649His