Canonical Allele Identifier: CA2473784832
Gene: MMACHC HGNC NCBI
PRDX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45510977G= , CM000663.2:g.45510977G= GRCh38
NC_000001.10:g.45976649G= , CM000663.1:g.45976649G= GRCh37
NC_000001.9:g.45749236G= NCBI36
NG_013378.1:g.15794G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.*1762G= (MMACHC) MANE Select ENSP00000383840.4:n.*1762G=
ENST00000424390.2:c.*352C= (PRDX1) ENSP00000389047.2:n.*352C=
ENST00000447184.6:c.*352C= (PRDX1) ENSP00000407034.2:n.*352C=
ENST00000676549.1:c.*352C= (PRDX1) ENSP00000503140.1:n.*352C=
ENST00000401061.8:c.*1762G= (MMACHC) ENSP00000383840.4:n.*1762G=
ENST00000616135.1:c.*581G= (MMACHC) ENSP00000478859.1:n.*581G=
NM_015506.2:c.*1762G= (MMACHC) NP_056321.2:n.*1762G=
NM_001330540.1:c.*1762G= (MMACHC) NP_001317469.1:n.*1762G=
XM_005270724.5:c.*1762G= (MMACHC) XP_005270781.1:n.*1762G=
NM_015506.3:c.*1762G= (MMACHC) MANE Select NP_056321.2:n.*1762G=
NM_001330540.2:c.*1762G= (MMACHC) NP_001317469.1:n.*1762G=