Canonical Allele Identifier: CA2675168

Gene: MME

Linked Data

• ClinVar Variation Id: 431858
• ClinVar RCV Id: RCV000497353 ; RCV003492079
• dbSNP Id: rs200435950
• ExAC: 3:154834451 A / C
• gnomAD v2: 3-154834451-A-C
• gnomAD v3: 3-155116662-A-C
• gnomAD v4: 3-155116662-A-C
• MyVariant Identifiers: chr3:g.154834451A>C (hg19) ; chr3:g.155116662A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.155116662A>C , CM000665.2:g.155116662A>C	GRCh38
NC_000003.11:g.154834451A>C , CM000665.1:g.154834451A>C	GRCh37
NC_000003.10:g.156317145A>C	NCBI36
NG_051105.1:g.97539A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360490.7:c.440-2A>C MANE Select	ENSP00000353679.2:n.440-2A>C
ENST00000460393.6:c.440-2A>C	ENSP00000418525.1:n.440-2A>C
ENST00000473730.6:c.440-2A>C	ENSP00000420542.2:n.440-2A>C
ENST00000491026.6:c.440-2A>C	ENSP00000418791.2:n.440-2A>C
ENST00000615825.2:c.440-2A>C	ENSP00000478173.2:n.440-2A>C
ENST00000675418.2:c.440-2A>C	ENSP00000502021.2:n.440-2A>C
ENST00000679362.1:n.283-2A>C
ENST00000680057.1:c.440-2A>C	ENSP00000505211.1:n.440-2A>C
ENST00000680282.1:c.440-2A>C	ENSP00000505690.1:n.440-2A>C
ENST00000360490.6:c.440-2A>C	ENSP00000353679.2:n.440-2A>C
ENST00000460393.5:c.440-2A>C	ENSP00000418525.1:n.440-2A>C
ENST00000462745.5:c.440-2A>C	ENSP00000419653.1:n.440-2A>C
ENST00000462837.5:c.440-2A>C	ENSP00000417595.1:n.440-2A>C
ENST00000481828.5:c.440-2A>C	ENSP00000420101.1:n.440-2A>C
ENST00000492661.5:c.440-2A>C	ENSP00000420389.1:n.440-2A>C
ENST00000493237.5:c.440-2A>C	ENSP00000417079.1:n.440-2A>C
ENST00000615825.1:c.440-2A>C	ENSP00000478173.1:n.440-2A>C
NM_000902.3:c.440-2A>C	NP_000893.2:n.440-2A>C
NM_007287.2:c.440-2A>C	NP_009218.2:n.440-2A>C
NM_007288.2:c.440-2A>C	NP_009219.2:n.440-2A>C
NM_007289.2:c.440-2A>C	NP_009220.2:n.440-2A>C
XM_006713646.2:c.440-2A>C	XP_006713709.1:n.440-2A>C
XM_006713647.2:c.440-2A>C	XP_006713710.1:n.440-2A>C
XM_011512855.1:c.440-2A>C	XP_011511157.1:n.440-2A>C
XM_011512856.1:c.440-2A>C	XP_011511158.1:n.440-2A>C
XM_011512857.1:c.440-2A>C	XP_011511159.1:n.440-2A>C
XM_011512858.1:c.440-2A>C	XP_011511160.1:n.440-2A>C
NM_001354642.1:c.440-2A>C	NP_001341571.1:n.440-2A>C
NM_001354643.1:c.440-2A>C	NP_001341572.1:n.440-2A>C
NM_007288.3:c.440-2A>C	NP_009219.2:n.440-2A>C
NM_007289.3:c.440-2A>C	NP_009220.2:n.440-2A>C
XM_006713647.4:c.440-2A>C	XP_006713710.1:n.440-2A>C
XM_011512856.2:c.440-2A>C	XP_011511158.1:n.440-2A>C
XM_011512857.2:c.440-2A>C	XP_011511159.1:n.440-2A>C
NM_000902.4:c.440-2A>C	NP_000893.2:n.440-2A>C
NM_007287.3:c.440-2A>C	NP_009218.2:n.440-2A>C
NM_007289.4:c.440-2A>C MANE Select	NP_009220.2:n.440-2A>C
NM_000902.5:c.440-2A>C	NP_000893.2:n.440-2A>C
NM_001354642.2:c.440-2A>C	NP_001341571.1:n.440-2A>C
NM_007287.4:c.440-2A>C	NP_009218.2:n.440-2A>C