Canonical Allele Identifier: CA2488685

Gene: LMOD3

Linked Data

• ClinVar Variation Id: 475312
• ClinVar RCV Id: RCV000554863 ; RCV001584341
• dbSNP Id: rs17005363
• ExAC: 3:69158250 G / A
• gnomAD v2: 3-69158250-G-A
• gnomAD v3: 3-69109099-G-A
• gnomAD v4: 3-69109099-G-A
• MyVariant Identifiers: chr3:g.69158250G>A (hg19) ; chr3:g.69109099G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69109099G>A , CM000665.2:g.69109099G>A	GRCh38
NC_000003.11:g.69158250G>A , CM000665.1:g.69158250G>A	GRCh37
NC_000003.10:g.69240940G>A	NCBI36
NG_041828.1:g.18497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420581.7:c.1679C>T MANE Select	ENSP00000414670.3:p.Ala560Val
ENST00000420581.6:c.1679C>T	ENSP00000414670.2:p.Ala560Val
ENST00000475434.1:c.1679C>T	ENSP00000418645.1:p.Ala560Val
ENST00000489031.5:c.1679C>T	ENSP00000417210.1:p.Ala560Val
NM_001304418.1:c.1679C>T	NP_001291347.1:p.Ala560Val
NM_198271.4:c.1679C>T	NP_938012.2:p.Ala560Val
NM_001304418.3:c.1679C>T	NP_001291347.1:p.Ala560Val
NM_198271.5:c.1679C>T MANE Select	NP_938012.2:p.Ala560Val