Canonical Allele Identifier: CA385673326

Gene: LEMD3

Linked Data

• gnomAD v4: 12-65170084-C-A
• MyVariant Identifiers: chr12:g.65563864C>A (hg19) ; chr12:g.65170084C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65170084C>A , CM000674.2:g.65170084C>A	GRCh38
NC_000012.11:g.65563864C>A , CM000674.1:g.65563864C>A	GRCh37
NC_000012.10:g.63850131C>A	NCBI36
NG_016210.1:g.5514C>A
NG_016210.2:g.5514C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.488C>A MANE Select	ENSP00000308369.2:p.Ala163Asp
ENST00000308330.2:c.488C>A	ENSP00000308369.2:p.Ala163Asp
ENST00000541171.1:n.502C>A
NM_001167614.1:c.488C>A	NP_001161086.1:p.Ala163Asp
NM_014319.4:c.488C>A	NP_055134.2:p.Ala163Asp
NM_014319.5:c.488C>A MANE Select	NP_055134.2:p.Ala163Asp
NM_001167614.2:c.488C>A	NP_001161086.1:p.Ala163Asp