Canonical Allele Identifier: CA2645392735

Gene: MMACHC PRDX1

Linked Data

• gnomAD v4: 1-45511049-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511049G>T , CM000663.2:g.45511049G>T	GRCh38
NC_000001.10:g.45976721G>T , CM000663.1:g.45976721G>T	GRCh37
NC_000001.9:g.45749308G>T	NCBI36
NG_013378.1:g.15866G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1834G>T (MMACHC) MANE Select	ENSP00000383840.4:n.*1834G>T
ENST00000424390.2:c.*280C>A (PRDX1)	ENSP00000389047.2:n.*280C>A
ENST00000447184.6:c.*280C>A (PRDX1)	ENSP00000407034.2:n.*280C>A
ENST00000676549.1:c.*280C>A (PRDX1)	ENSP00000503140.1:n.*280C>A
ENST00000262746.5:c.*280C>A (PRDX1)	ENSP00000262746.1:n.*280C>A
ENST00000319248.12:c.*280C>A (PRDX1)	ENSP00000361152.5:n.*280C>A
ENST00000401061.8:c.*1834G>T (MMACHC)	ENSP00000383840.4:n.*1834G>T
ENST00000616135.1:c.*653G>T (MMACHC)	ENSP00000478859.1:n.*653G>T
NM_001202431.1:c.*280C>A (PRDX1)	NP_001189360.1:n.*280C>A
NM_002574.3:c.*280C>A (PRDX1)	NP_002565.1:n.*280C>A
NM_015506.2:c.*1834G>T (MMACHC)	NP_056321.2:n.*1834G>T
NM_181696.2:c.*280C>A (PRDX1)	NP_859047.1:n.*280C>A
NM_181697.2:c.*280C>A (PRDX1)	NP_859048.1:n.*280C>A
NM_001330540.1:c.*1834G>T (MMACHC)	NP_001317469.1:n.*1834G>T
XM_005270724.5:c.*1834G>T (MMACHC)	XP_005270781.1:n.*1834G>T
NM_015506.3:c.*1834G>T (MMACHC) MANE Select	NP_056321.2:n.*1834G>T
NM_001330540.2:c.*1834G>T (MMACHC)	NP_001317469.1:n.*1834G>T