Canonical Allele Identifier: CA6830488

Gene: MLEC

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014730.4:c.711A>C MANE Select	NP_055545.1:p.Glu237Asp
ENST00000228506.8:c.711A>C MANE Select	ENSP00000228506.3:p.Glu237Asp
NM_001303627.1:c.462A>C	NP_001290556.1:p.Glu154Asp
NM_001303627.2:c.462A>C	NP_001290556.1:p.Glu154Asp
NM_001303628.1:c.476A>C	NP_001290557.1:p.Lys159Thr
NM_001303628.2:c.476A>C	NP_001290557.1:p.Lys159Thr
NM_014730.3:c.711A>C	NP_055545.1:p.Glu237Asp
ENST00000228506.7:c.711A>C	ENSP00000228506.3:p.Glu237Asp
ENST00000412616.2:c.476A>C	ENSP00000440746.1:p.Lys159Thr
ENST00000535656.1:c.342A>C
XM_011539031.1:c.462A>C	XP_011537333.1:p.Glu154Asp
XM_011539032.1:c.462A>C	XP_011537334.1:p.Glu154Asp
XM_011539033.1:c.462A>C	XP_011537335.1:p.Glu154Asp
XM_011539034.1:c.462A>C	XP_011537336.1:p.Glu154Asp