Canonical Allele Identifier: CA10584007

Gene: MME

Linked Data

• ClinVar Variation Id: 242839
• ClinVar RCV Id: RCV000234863 ; RCV001814126
• dbSNP Id: rs879253752
• MyVariant Identifiers: chr3:g.154886361T>C (hg19) ; chr3:g.155168572T>C (hg38)
• PubMed: PMID:26991897

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.155168572T>C , CM000665.2:g.155168572T>C	GRCh38
NC_000003.11:g.154886361T>C , CM000665.1:g.154886361T>C	GRCh37
NC_000003.10:g.156369055T>C	NCBI36
NG_051105.1:g.149449T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360490.7:c.1861T>C MANE Select	ENSP00000353679.2:p.Cys621Arg
ENST00000460393.6:c.1861T>C	ENSP00000418525.1:p.Cys621Arg
ENST00000473730.6:c.1861T>C	ENSP00000420542.2:p.Cys621Arg
ENST00000491026.6:c.1861T>C	ENSP00000418791.2:p.Cys621Arg
ENST00000615825.2:c.1951T>C	ENSP00000478173.2:p.Cys651Arg
ENST00000675418.2:c.1861T>C	ENSP00000502021.2:p.Cys621Arg
ENST00000680057.1:c.1861T>C	ENSP00000505211.1:p.Cys621Arg
ENST00000680282.1:c.1861T>C	ENSP00000505690.1:p.Cys621Arg
ENST00000360490.6:c.1861T>C	ENSP00000353679.2:p.Cys621Arg
ENST00000460393.5:c.1861T>C	ENSP00000418525.1:p.Cys621Arg
ENST00000462745.5:c.1861T>C	ENSP00000419653.1:p.Cys621Arg
ENST00000492661.5:c.1861T>C	ENSP00000420389.1:p.Cys621Arg
ENST00000493237.5:c.1861T>C	ENSP00000417079.1:p.Cys621Arg
ENST00000495577.1:n.260T>C
ENST00000615825.1:c.1861T>C	ENSP00000478173.1:p.Cys621Arg
NM_000902.3:c.1861T>C	NP_000893.2:p.Cys621Arg
NM_007287.2:c.1861T>C	NP_009218.2:p.Cys621Arg
NM_007288.2:c.1861T>C	NP_009219.2:p.Cys621Arg
NM_007289.2:c.1861T>C	NP_009220.2:p.Cys621Arg
XM_006713646.2:c.1861T>C	XP_006713709.1:p.Cys621Arg
XM_006713647.2:c.1861T>C	XP_006713710.1:p.Cys621Arg
XM_011512855.1:c.1861T>C	XP_011511157.1:p.Cys621Arg
XM_011512856.1:c.1861T>C	XP_011511158.1:p.Cys621Arg
XM_011512857.1:c.1861T>C	XP_011511159.1:p.Cys621Arg
XM_011512858.1:c.1861T>C	XP_011511160.1:p.Cys621Arg
NM_001354642.1:c.1861T>C	NP_001341571.1:p.Cys621Arg
NM_001354643.1:c.1861T>C	NP_001341572.1:p.Cys621Arg
NM_007288.3:c.1861T>C	NP_009219.2:p.Cys621Arg
NM_007289.3:c.1861T>C	NP_009220.2:p.Cys621Arg
XM_006713647.4:c.1861T>C	XP_006713710.1:p.Cys621Arg
XM_011512856.2:c.1861T>C	XP_011511158.1:p.Cys621Arg
XM_011512857.2:c.1861T>C	XP_011511159.1:p.Cys621Arg
NM_000902.4:c.1861T>C	NP_000893.2:p.Cys621Arg
NM_007287.3:c.1861T>C	NP_009218.2:p.Cys621Arg
NM_007289.4:c.1861T>C MANE Select	NP_009220.2:p.Cys621Arg
NM_000902.5:c.1861T>C	NP_000893.2:p.Cys621Arg
NM_001354642.2:c.1861T>C	NP_001341571.1:p.Cys621Arg
NM_007287.4:c.1861T>C	NP_009218.2:p.Cys621Arg