Canonical Allele Identifier: CA2645392784
Gene: PRDX1 HGNC NCBI
MMACHC HGNC NCBI

Linked Data

gnomAD v4: 1-45511123-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45511123G>T , CM000663.2:g.45511123G>T GRCh38
NC_000001.10:g.45976795G>T , CM000663.1:g.45976795G>T GRCh37
NC_000001.9:g.45749382G>T NCBI36
NG_013378.1:g.15940G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319248.13:c.*206C>A (PRDX1) MANE Select ENSP00000361152.5:n.*206C>A
ENST00000401061.9:c.*1908G>T (MMACHC) MANE Select ENSP00000383840.4:n.*1908G>T
ENST00000424390.2:c.*206C>A (PRDX1) ENSP00000389047.2:n.*206C>A
ENST00000447184.6:c.*206C>A (PRDX1) ENSP00000407034.2:n.*206C>A
ENST00000676549.1:c.*206C>A (PRDX1) ENSP00000503140.1:n.*206C>A
ENST00000262746.5:c.*206C>A (PRDX1) ENSP00000262746.1:n.*206C>A
ENST00000319248.12:c.*206C>A (PRDX1) ENSP00000361152.5:n.*206C>A
ENST00000372079.1:c.*206C>A (PRDX1) ENSP00000361150.1:n.*206C>A
ENST00000401061.8:c.*1908G>T (MMACHC) ENSP00000383840.4:n.*1908G>T
NM_001202431.1:c.*206C>A (PRDX1) NP_001189360.1:n.*206C>A
NM_002574.3:c.*206C>A (PRDX1) NP_002565.1:n.*206C>A
NM_181696.2:c.*206C>A (PRDX1) NP_859047.1:n.*206C>A
NM_181697.2:c.*206C>A (PRDX1) NP_859048.1:n.*206C>A
XM_005270724.5:c.*1908G>T (MMACHC) XP_005270781.1:n.*1908G>T
NM_015506.3:c.*1908G>T (MMACHC) MANE Select NP_056321.2:n.*1908G>T
NM_181697.3:c.*206C>A (PRDX1) MANE Select NP_859048.1:n.*206C>A
NM_001330540.2:c.*1908G>T (MMACHC) NP_001317469.1:n.*1908G>T
NM_001202431.2:c.*206C>A (PRDX1) NP_001189360.1:n.*206C>A
NM_002574.4:c.*206C>A (PRDX1) NP_002565.1:n.*206C>A
NM_181696.3:c.*206C>A (PRDX1) NP_859047.1:n.*206C>A