Canonical Allele Identifier: CA5748163

Gene: MGMT

Linked Data

• dbSNP Id: rs748774050
• ExAC: 10:131565216 G / A
• gnomAD v2: 10-131565216-G-A
• gnomAD v4: 10-129766952-G-A
• MyVariant Identifiers: chr10:g.131565216G>A (hg19) ; chr10:g.129766952G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129766952G>A , CM000672.2:g.129766952G>A	GRCh38
NC_000010.10:g.131565216G>A , CM000672.1:g.131565216G>A	GRCh37
NC_000010.9:g.131455206G>A	NCBI36
NG_052673.1:g.304769G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306010.8:c.672G>A	ENSP00000302111.7:p.Lys224=
ENST00000651593.1:c.579G>A MANE Select	ENSP00000498729.1:p.Lys193=
ENST00000306010.7:c.672G>A	ENSP00000302111.7:p.Lys224=
NM_002412.3:c.672G>A	NP_002403.2:p.Lys224=
NM_002412.4:c.672G>A	NP_002403.2:p.Lys224=
XM_005252682.2:c.579G>A	XP_005252739.1:p.Lys193=
XM_006717863.2:c.402G>A	XP_006717926.1:p.Lys134=
XM_011539817.1:c.588G>A	XP_011538119.1:p.Lys196=
NM_002412.5:c.579G>A MANE Select	NP_002403.3:p.Lys193=
XM_017016275.1:c.402G>A	XP_016871764.1:p.Lys134=