Canonical Allele Identifier: CA386605353

Gene: MLEC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120696377A>T , CM000674.2:g.120696377A>T	GRCh38
NC_000012.11:g.121134180A>T , CM000674.1:g.121134180A>T	GRCh37
NC_000012.10:g.119618563A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014730.4:c.711A>T MANE Select	NP_055545.1:p.Glu237Asp
ENST00000228506.8:c.711A>T MANE Select	ENSP00000228506.3:p.Glu237Asp
NM_001303627.1:c.462A>T	NP_001290556.1:p.Glu154Asp
NM_001303627.2:c.462A>T	NP_001290556.1:p.Glu154Asp
NM_001303628.1:c.476A>T	NP_001290557.1:p.Lys159Met
NM_001303628.2:c.476A>T	NP_001290557.1:p.Lys159Met
NM_014730.3:c.711A>T	NP_055545.1:p.Glu237Asp
ENST00000228506.7:c.711A>T	ENSP00000228506.3:p.Glu237Asp
ENST00000412616.2:c.476A>T	ENSP00000440746.1:p.Lys159Met
ENST00000535656.1:c.342A>T
XM_011539031.1:c.462A>T	XP_011537333.1:p.Glu154Asp
XM_011539032.1:c.462A>T	XP_011537334.1:p.Glu154Asp
XM_011539033.1:c.462A>T	XP_011537335.1:p.Glu154Asp
XM_011539034.1:c.462A>T	XP_011537336.1:p.Glu154Asp