Canonical Allele Identifier: CA480666070

Gene: LEMD3

Linked Data

• gnomAD v4: 12-65238516-A-G
• MyVariant Identifiers: chr12:g.65632296A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65238516A>G , CM000674.2:g.65238516A>G	GRCh38
NC_000012.11:g.65632296A>G , CM000674.1:g.65632296A>G	GRCh37
NC_000012.10:g.63918563A>G	NCBI36
NG_016210.1:g.73946A>G
NG_016210.2:g.73946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.1710A>G MANE Select	ENSP00000308369.2:p.Glu570=
ENST00000308330.2:c.1710A>G	ENSP00000308369.2:p.Glu570=
NM_001167614.1:c.1707A>G	NP_001161086.1:p.Glu569=
NM_014319.4:c.1710A>G	NP_055134.2:p.Glu570=
NM_014319.5:c.1710A>G MANE Select	NP_055134.2:p.Glu570=
NM_001167614.2:c.1707A>G	NP_001161086.1:p.Glu569=