Canonical Allele Identifier: CA2645392715

Gene: MMACHC PRDX1

Linked Data

• gnomAD v4: 1-45511016-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511016A>C , CM000663.2:g.45511016A>C	GRCh38
NC_000001.10:g.45976688A>C , CM000663.1:g.45976688A>C	GRCh37
NC_000001.9:g.45749275A>C	NCBI36
NG_013378.1:g.15833A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1801A>C (MMACHC) MANE Select	ENSP00000383840.4:n.*1801A>C
ENST00000424390.2:c.*313T>G (PRDX1)	ENSP00000389047.2:n.*313T>G
ENST00000447184.6:c.*313T>G (PRDX1)	ENSP00000407034.2:n.*313T>G
ENST00000676549.1:c.*313T>G (PRDX1)	ENSP00000503140.1:n.*313T>G
ENST00000401061.8:c.*1801A>C (MMACHC)	ENSP00000383840.4:n.*1801A>C
ENST00000616135.1:c.*620A>C (MMACHC)	ENSP00000478859.1:n.*620A>C
NM_015506.2:c.*1801A>C (MMACHC)	NP_056321.2:n.*1801A>C
NM_001330540.1:c.*1801A>C (MMACHC)	NP_001317469.1:n.*1801A>C
XM_005270724.5:c.*1801A>C (MMACHC)	XP_005270781.1:n.*1801A>C
NM_015506.3:c.*1801A>C (MMACHC) MANE Select	NP_056321.2:n.*1801A>C
NM_001330540.2:c.*1801A>C (MMACHC)	NP_001317469.1:n.*1801A>C