Canonical Allele Identifier: CA2473784864
Gene: MMACHC HGNC NCBI
PRDX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45511043C= , CM000663.2:g.45511043C= GRCh38
NC_000001.10:g.45976715C= , CM000663.1:g.45976715C= GRCh37
NC_000001.9:g.45749302C= NCBI36
NG_013378.1:g.15860C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.*1828C= (MMACHC) MANE Select ENSP00000383840.4:n.*1828C=
ENST00000424390.2:c.*286G= (PRDX1) ENSP00000389047.2:n.*286G=
ENST00000447184.6:c.*286G= (PRDX1) ENSP00000407034.2:n.*286G=
ENST00000676549.1:c.*286G= (PRDX1) ENSP00000503140.1:n.*286G=
ENST00000262746.5:c.*286G= (PRDX1) ENSP00000262746.1:n.*286G=
ENST00000401061.8:c.*1828C= (MMACHC) ENSP00000383840.4:n.*1828C=
ENST00000616135.1:c.*647C= (MMACHC) ENSP00000478859.1:n.*647C=
NM_001202431.1:c.*286G= (PRDX1) NP_001189360.1:n.*286G=
NM_002574.3:c.*286G= (PRDX1) NP_002565.1:n.*286G=
NM_015506.2:c.*1828C= (MMACHC) NP_056321.2:n.*1828C=
NM_181696.2:c.*286G= (PRDX1) NP_859047.1:n.*286G=
NM_181697.2:c.*286G= (PRDX1) NP_859048.1:n.*286G=
NM_001330540.1:c.*1828C= (MMACHC) NP_001317469.1:n.*1828C=
XM_005270724.5:c.*1828C= (MMACHC) XP_005270781.1:n.*1828C=
NM_015506.3:c.*1828C= (MMACHC) MANE Select NP_056321.2:n.*1828C=
NM_001330540.2:c.*1828C= (MMACHC) NP_001317469.1:n.*1828C=