Canonical Allele Identifier: CA1001246568

Gene: PRDX1 MMACHC

Linked Data

• dbSNP Id: rs920955354
• gnomAD v3: 1-45511618-T-G
• gnomAD v4: 1-45511618-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511618T>G , CM000663.2:g.45511618T>G	GRCh38
NC_000001.10:g.45977290T>G , CM000663.1:g.45977290T>G	GRCh37
NC_000001.9:g.45749877T>G	NCBI36
NG_013378.1:g.16435T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319248.13:c.515-204A>C (PRDX1) MANE Select	ENSP00000361152.5:n.515-204A>C
ENST00000401061.9:c.*2403T>G (MMACHC) MANE Select	ENSP00000383840.4:n.*2403T>G
ENST00000424390.2:c.515-204A>C (PRDX1)	ENSP00000389047.2:n.515-204A>C
ENST00000447184.6:c.515-204A>C (PRDX1)	ENSP00000407034.2:n.515-204A>C
ENST00000676549.1:c.515-204A>C (PRDX1)	ENSP00000503140.1:n.515-204A>C
ENST00000262746.5:c.515-204A>C (PRDX1)	ENSP00000262746.1:n.515-204A>C
ENST00000319248.12:c.515-204A>C (PRDX1)	ENSP00000361152.5:n.515-204A>C
ENST00000372079.1:c.209-204A>C (PRDX1)	ENSP00000361150.1:n.209-204A>C
ENST00000401061.8:c.*2403T>G (MMACHC)	ENSP00000383840.4:n.*2403T>G
NM_001202431.1:c.515-204A>C (PRDX1)	NP_001189360.1:n.515-204A>C
NM_002574.3:c.515-204A>C (PRDX1)	NP_002565.1:n.515-204A>C
NM_181696.2:c.515-204A>C (PRDX1)	NP_859047.1:n.515-204A>C
NM_181697.2:c.515-204A>C (PRDX1)	NP_859048.1:n.515-204A>C
NM_015506.3:c.*2403T>G (MMACHC) MANE Select	NP_056321.2:n.*2403T>G
NM_181697.3:c.515-204A>C (PRDX1) MANE Select	NP_859048.1:n.515-204A>C
NM_001330540.2:c.*2403T>G (MMACHC)	NP_001317469.1:n.*2403T>G
NM_001202431.2:c.515-204A>C (PRDX1)	NP_001189360.1:n.515-204A>C
NM_002574.4:c.515-204A>C (PRDX1)	NP_002565.1:n.515-204A>C
NM_181696.3:c.515-204A>C (PRDX1)	NP_859047.1:n.515-204A>C