Canonical Allele Identifier: CA385676556

Gene: LEMD3

Linked Data

• MyVariant Identifiers: chr12:g.65639994T>A (hg19) ; chr12:g.65246214T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65246214T>A , CM000674.2:g.65246214T>A	GRCh38
NC_000012.11:g.65639994T>A , CM000674.1:g.65639994T>A	GRCh37
NC_000012.10:g.63926261T>A	NCBI36
NG_016210.1:g.81644T>A
NG_016210.2:g.81644T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2625T>A MANE Select	ENSP00000308369.2:p.Phe875Leu
ENST00000308330.2:c.2625T>A	ENSP00000308369.2:p.Phe875Leu
ENST00000539442.1:n.607T>A
ENST00000544506.1:n.345T>A
ENST00000545026.1:n.443T>A
NM_001167614.1:c.2622T>A	NP_001161086.1:p.Phe874Leu
NM_014319.4:c.2625T>A	NP_055134.2:p.Phe875Leu
NM_014319.5:c.2625T>A MANE Select	NP_055134.2:p.Phe875Leu
NM_001167614.2:c.2622T>A	NP_001161086.1:p.Phe874Leu