Canonical Allele Identifier: CA2645392723

Gene: MMACHC PRDX1

Linked Data

• gnomAD v4: 1-45511029-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511029C>A , CM000663.2:g.45511029C>A	GRCh38
NC_000001.10:g.45976701C>A , CM000663.1:g.45976701C>A	GRCh37
NC_000001.9:g.45749288C>A	NCBI36
NG_013378.1:g.15846C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1814C>A (MMACHC) MANE Select	ENSP00000383840.4:n.*1814C>A
ENST00000424390.2:c.*300G>T (PRDX1)	ENSP00000389047.2:n.*300G>T
ENST00000447184.6:c.*300G>T (PRDX1)	ENSP00000407034.2:n.*300G>T
ENST00000676549.1:c.*300G>T (PRDX1)	ENSP00000503140.1:n.*300G>T
ENST00000401061.8:c.*1814C>A (MMACHC)	ENSP00000383840.4:n.*1814C>A
ENST00000616135.1:c.*633C>A (MMACHC)	ENSP00000478859.1:n.*633C>A
NM_015506.2:c.*1814C>A (MMACHC)	NP_056321.2:n.*1814C>A
NM_001330540.1:c.*1814C>A (MMACHC)	NP_001317469.1:n.*1814C>A
XM_005270724.5:c.*1814C>A (MMACHC)	XP_005270781.1:n.*1814C>A
NM_015506.3:c.*1814C>A (MMACHC) MANE Select	NP_056321.2:n.*1814C>A
NM_001330540.2:c.*1814C>A (MMACHC)	NP_001317469.1:n.*1814C>A