Canonical Allele Identifier: CA385672062

Gene: LEMD3

Linked Data

• MyVariant Identifiers: chr12:g.65633793T>A (hg19) ; chr12:g.65240013T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.65240013T>A , CM000674.2:g.65240013T>A	GRCh38
NC_000012.11:g.65633793T>A , CM000674.1:g.65633793T>A	GRCh37
NC_000012.10:g.63920060T>A	NCBI36
NG_016210.1:g.75443T>A
NG_016210.2:g.75443T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308330.3:c.2006T>A MANE Select	ENSP00000308369.2:p.Met669Lys
ENST00000308330.2:c.2006T>A	ENSP00000308369.2:p.Met669Lys
NM_001167614.1:c.2003T>A	NP_001161086.1:p.Met668Lys
NM_014319.4:c.2006T>A	NP_055134.2:p.Met669Lys
NM_014319.5:c.2006T>A MANE Select	NP_055134.2:p.Met669Lys
NM_001167614.2:c.2003T>A	NP_001161086.1:p.Met668Lys