Canonical Allele Identifier: CA1001246351

Gene: MMACHC PRDX1

Linked Data

• dbSNP Id: rs1557610839
• gnomAD v3: 1-45510995-T-G
• gnomAD v4: 1-45510995-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510995T>G , CM000663.2:g.45510995T>G	GRCh38
NC_000001.10:g.45976667T>G , CM000663.1:g.45976667T>G	GRCh37
NC_000001.9:g.45749254T>G	NCBI36
NG_013378.1:g.15812T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1780T>G (MMACHC) MANE Select	ENSP00000383840.4:n.*1780T>G
ENST00000424390.2:c.*334A>C (PRDX1)	ENSP00000389047.2:n.*334A>C
ENST00000447184.6:c.*334A>C (PRDX1)	ENSP00000407034.2:n.*334A>C
ENST00000676549.1:c.*334A>C (PRDX1)	ENSP00000503140.1:n.*334A>C
ENST00000401061.8:c.*1780T>G (MMACHC)	ENSP00000383840.4:n.*1780T>G
ENST00000616135.1:c.*599T>G (MMACHC)	ENSP00000478859.1:n.*599T>G
NM_015506.2:c.*1780T>G (MMACHC)	NP_056321.2:n.*1780T>G
NM_001330540.1:c.*1780T>G (MMACHC)	NP_001317469.1:n.*1780T>G
XM_005270724.5:c.*1780T>G (MMACHC)	XP_005270781.1:n.*1780T>G
NM_015506.3:c.*1780T>G (MMACHC) MANE Select	NP_056321.2:n.*1780T>G
NM_001330540.2:c.*1780T>G (MMACHC)	NP_001317469.1:n.*1780T>G