Canonical Allele Identifier: CA994333

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109690516G>C , CM000663.2:g.109690516G>C GRCh38
NC_000001.10:g.110233138G>C , CM000663.1:g.110233138G>C GRCh37
NC_000001.9:g.110034661G>C NCBI36
NG_009246.1:g.7721G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000309851.10:c.519G>C (GSTM1) MANE Select ENSP00000311469.5:p.Lys173Asn
ENST00000309851.9:c.519G>C (GSTM1) ENSP00000311469.5:p.Lys173Asn
ENST00000349334.7:c.456+150G>C (GSTM1) ENSP00000234981.4:n.456+150G>C
ENST00000369819.2:c.360+1191G>C (GSTM1) ENSP00000358834.2:n.360+1191G>C
ENST00000369823.6:c.576G>C (GSTM1) ENSP00000358838.2:p.Lys192Asn
ENST00000369831.6:c.568-17965G>C (GSTM2) ENSP00000358846.2:n.568-17965G>C
ENST00000460717.7:c.*17+8682G>C (GSTM2) ENSP00000435910.2:n.*17+8682G>C
ENST00000483399.6:c.*20+1191G>C (GSTM1) ENSP00000455929.1:n.*20+1191G>C
ENST00000490021.2:n.344+1191G>C (GSTM1)
NM_000561.3:c.519G>C (GSTM1) NP_000552.2:p.Lys173Asn
NM_146421.2:c.456+150G>C (GSTM1) NP_666533.1:n.456+150G>C
XM_005270782.3:c.417G>C (GSTM1) XP_005270839.1:p.Lys139Asn
XM_005270783.3:c.207G>C (GSTM1) XP_005270840.1:p.Lys69Asn
XM_005270782.5:c.417G>C (GSTM1) XP_005270839.1:p.Lys139Asn
NM_000561.4:c.519G>C (GSTM1) MANE Select NP_000552.2:p.Lys173Asn
NM_146421.3:c.456+150G>C (GSTM1) NP_666533.1:n.456+150G>C