Canonical Allele Identifier: CA2473784849
Gene: MMACHC HGNC NCBI
PRDX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45511008C= , CM000663.2:g.45511008C= GRCh38
NC_000001.10:g.45976680C= , CM000663.1:g.45976680C= GRCh37
NC_000001.9:g.45749267C= NCBI36
NG_013378.1:g.15825C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.*1793C= (MMACHC) MANE Select ENSP00000383840.4:n.*1793C=
ENST00000424390.2:c.*321G= (PRDX1) ENSP00000389047.2:n.*321G=
ENST00000447184.6:c.*321G= (PRDX1) ENSP00000407034.2:n.*321G=
ENST00000676549.1:c.*321G= (PRDX1) ENSP00000503140.1:n.*321G=
ENST00000401061.8:c.*1793C= (MMACHC) ENSP00000383840.4:n.*1793C=
ENST00000616135.1:c.*612C= (MMACHC) ENSP00000478859.1:n.*612C=
NM_015506.2:c.*1793C= (MMACHC) NP_056321.2:n.*1793C=
NM_001330540.1:c.*1793C= (MMACHC) NP_001317469.1:n.*1793C=
XM_005270724.5:c.*1793C= (MMACHC) XP_005270781.1:n.*1793C=
NM_015506.3:c.*1793C= (MMACHC) MANE Select NP_056321.2:n.*1793C=
NM_001330540.2:c.*1793C= (MMACHC) NP_001317469.1:n.*1793C=
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