Canonical Allele Identifier: CA480743549

Gene: LEMD3

Linked Data

• dbSNP Id: rs1281017378
• gnomAD v4: 12-65170100-C-G
• MyVariant Identifiers: chr12:g.65563880C>G (hg19) ; chr12:g.65170100C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65170100C>G , CM000674.2:g.65170100C>G	GRCh38
NC_000012.11:g.65563880C>G , CM000674.1:g.65563880C>G	GRCh37
NC_000012.10:g.63850147C>G	NCBI36
NG_016210.1:g.5530C>G
NG_016210.2:g.5530C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.504C>G MANE Select	ENSP00000308369.2:p.Arg168=
ENST00000308330.2:c.504C>G	ENSP00000308369.2:p.Arg168=
ENST00000541171.1:n.518C>G
NM_001167614.1:c.504C>G	NP_001161086.1:p.Arg168=
NM_014319.4:c.504C>G	NP_055134.2:p.Arg168=
NM_014319.5:c.504C>G MANE Select	NP_055134.2:p.Arg168=
NM_001167614.2:c.504C>G	NP_001161086.1:p.Arg168=