Canonical Allele Identifier: CA5748138

Gene: MGMT

Linked Data

• dbSNP Id: rs373120552
• ExAC: 10:131565127 G / A
• gnomAD v2: 10-131565127-G-A
• gnomAD v3: 10-129766863-G-A
• gnomAD v4: 10-129766863-G-A
• MyVariant Identifiers: chr10:g.131565127G>A (hg19) ; chr10:g.129766863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129766863G>A , CM000672.2:g.129766863G>A	GRCh38
NC_000010.10:g.131565127G>A , CM000672.1:g.131565127G>A	GRCh37
NC_000010.9:g.131455117G>A	NCBI36
NG_052673.1:g.304680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306010.8:c.583G>A	ENSP00000302111.7:p.Val195Met
ENST00000651593.1:c.490G>A MANE Select	ENSP00000498729.1:p.Val164Met
ENST00000306010.7:c.583G>A	ENSP00000302111.7:p.Val195Met
NM_002412.3:c.583G>A	NP_002403.2:p.Val195Met
NM_002412.4:c.583G>A	NP_002403.2:p.Val195Met
XM_005252682.2:c.490G>A	XP_005252739.1:p.Val164Met
XM_006717863.2:c.313G>A	XP_006717926.1:p.Val105Met
XM_011539817.1:c.499G>A	XP_011538119.1:p.Val167Met
NM_002412.5:c.490G>A MANE Select	NP_002403.3:p.Val164Met
XM_017016275.1:c.313G>A	XP_016871764.1:p.Val105Met