Canonical Allele Identifier: CA5748169

Gene: MGMT

Linked Data

• dbSNP Id: rs2308324
• ExAC: 10:131565228 T / C
• gnomAD v2: 10-131565228-T-C
• gnomAD v4: 10-129766964-T-C
• MyVariant Identifiers: chr10:g.131565228T>C (hg19) ; chr10:g.129766964T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.129766964T>C , CM000672.2:g.129766964T>C	GRCh38
NC_000010.10:g.131565228T>C , CM000672.1:g.131565228T>C	GRCh37
NC_000010.9:g.131455218T>C	NCBI36
NG_052673.1:g.304781T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306010.8:c.684T>C	ENSP00000302111.7:p.Ala228=
ENST00000651593.1:c.591T>C MANE Select	ENSP00000498729.1:p.Ala197=
ENST00000306010.7:c.684T>C	ENSP00000302111.7:p.Ala228=
NM_002412.3:c.684T>C	NP_002403.2:p.Ala228=
NM_002412.4:c.684T>C	NP_002403.2:p.Ala228=
XM_005252682.2:c.591T>C	XP_005252739.1:p.Ala197=
XM_006717863.2:c.414T>C	XP_006717926.1:p.Ala138=
XM_011539817.1:c.600T>C	XP_011538119.1:p.Ala200=
NM_002412.5:c.591T>C MANE Select	NP_002403.3:p.Ala197=
XM_017016275.1:c.414T>C	XP_016871764.1:p.Ala138=