Canonical Allele Identifier: CA522560284
Gene: PRDX1 HGNC NCBI
MMACHC HGNC NCBI

Linked Data

dbSNP Id: rs1413196119
gnomAD v2: 1-45976997-G-C
gnomAD v4: 1-45511325-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45511325G>C , CM000663.2:g.45511325G>C GRCh38
NC_000001.10:g.45976997G>C , CM000663.1:g.45976997G>C GRCh37
NC_000001.9:g.45749584G>C NCBI36
NG_013378.1:g.16142G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000319248.13:c.*4C>G (PRDX1) MANE Select ENSP00000361152.5:n.*4C>G
ENST00000401061.9:c.*2110G>C (MMACHC) MANE Select ENSP00000383840.4:n.*2110G>C
ENST00000424390.2:c.*4C>G (PRDX1) ENSP00000389047.2:n.*4C>G
ENST00000447184.6:c.*4C>G (PRDX1) ENSP00000407034.2:n.*4C>G
ENST00000676549.1:c.*4C>G (PRDX1) ENSP00000503140.1:n.*4C>G
ENST00000262746.5:c.*4C>G (PRDX1) ENSP00000262746.1:n.*4C>G
ENST00000319248.12:c.*4C>G (PRDX1) ENSP00000361152.5:n.*4C>G
ENST00000372079.1:c.*4C>G (PRDX1) ENSP00000361150.1:n.*4C>G
ENST00000401061.8:c.*2110G>C (MMACHC) ENSP00000383840.4:n.*2110G>C
NM_001202431.1:c.*4C>G (PRDX1) NP_001189360.1:n.*4C>G
NM_002574.3:c.*4C>G (PRDX1) NP_002565.1:n.*4C>G
NM_181696.2:c.*4C>G (PRDX1) NP_859047.1:n.*4C>G
NM_181697.2:c.*4C>G (PRDX1) NP_859048.1:n.*4C>G
NM_015506.3:c.*2110G>C (MMACHC) MANE Select NP_056321.2:n.*2110G>C
NM_181697.3:c.*4C>G (PRDX1) MANE Select NP_859048.1:n.*4C>G
NM_001330540.2:c.*2110G>C (MMACHC) NP_001317469.1:n.*2110G>C
NM_001202431.2:c.*4C>G (PRDX1) NP_001189360.1:n.*4C>G
NM_002574.4:c.*4C>G (PRDX1) NP_002565.1:n.*4C>G
NM_181696.3:c.*4C>G (PRDX1) NP_859047.1:n.*4C>G