Canonical Allele Identifier: CA340135046

Gene: PRDX1 MMACHC

Linked Data

• gnomAD v4: 1-45511335-C-A
• MyVariant Identifiers: chr1:g.45977007C>A (hg19) ; chr1:g.45511335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511335C>A , CM000663.2:g.45511335C>A	GRCh38
NC_000001.10:g.45977007C>A , CM000663.1:g.45977007C>A	GRCh37
NC_000001.9:g.45749594C>A	NCBI36
NG_013378.1:g.16152C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000319248.13:c.594G>T (PRDX1) MANE Select	ENSP00000361152.5:p.Gln198His
ENST00000401061.9:c.*2120C>A (MMACHC) MANE Select	ENSP00000383840.4:n.*2120C>A
ENST00000424390.2:c.594G>T (PRDX1)	ENSP00000389047.2:p.Gln198His
ENST00000447184.6:c.594G>T (PRDX1)	ENSP00000407034.2:p.Gln198His
ENST00000676549.1:c.594G>T (PRDX1)	ENSP00000503140.1:p.Gln198His
ENST00000262746.5:c.594G>T (PRDX1)	ENSP00000262746.1:p.Gln198His
ENST00000319248.12:c.594G>T (PRDX1)	ENSP00000361152.5:p.Gln198His
ENST00000372079.1:c.288G>T (PRDX1)	ENSP00000361150.1:p.Gln96His
ENST00000401061.8:c.*2120C>A (MMACHC)	ENSP00000383840.4:n.*2120C>A
NM_001202431.1:c.594G>T (PRDX1)	NP_001189360.1:p.Gln198His
NM_002574.3:c.594G>T (PRDX1)	NP_002565.1:p.Gln198His
NM_181696.2:c.594G>T (PRDX1)	NP_859047.1:p.Gln198His
NM_181697.2:c.594G>T (PRDX1)	NP_859048.1:p.Gln198His
NM_015506.3:c.*2120C>A (MMACHC) MANE Select	NP_056321.2:n.*2120C>A
NM_181697.3:c.594G>T (PRDX1) MANE Select	NP_859048.1:p.Gln198His
NM_001330540.2:c.*2120C>A (MMACHC)	NP_001317469.1:n.*2120C>A
NM_001202431.2:c.594G>T (PRDX1)	NP_001189360.1:p.Gln198His
NM_002574.4:c.594G>T (PRDX1)	NP_002565.1:p.Gln198His
NM_181696.3:c.594G>T (PRDX1)	NP_859047.1:p.Gln198His