Canonical Allele Identifier: CA736194641

Gene: MMACHC PRDX1

Linked Data

• dbSNP Id: rs1183047609
• gnomAD v4: 1-45510988-GA-G
• MyVariant Identifiers: chr1:g.45976661del (hg19) ; chr1:g.45510989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510989del , CM000663.2:g.45510989del	GRCh38
NC_000001.10:g.45976661del , CM000663.1:g.45976661del	GRCh37
NC_000001.9:g.45749248del	NCBI36
NG_013378.1:g.15806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1774del (MMACHC) MANE Select	ENSP00000383840.4:n.*1774del
ENST00000424390.2:c.*340del (PRDX1)	ENSP00000389047.2:n.*340del
ENST00000447184.6:c.*340del (PRDX1)	ENSP00000407034.2:n.*340del
ENST00000676549.1:c.*340del (PRDX1)	ENSP00000503140.1:n.*340del
ENST00000401061.8:c.*1774del (MMACHC)	ENSP00000383840.4:n.*1774del
ENST00000616135.1:c.*593del (MMACHC)	ENSP00000478859.1:n.*593del
NM_015506.2:c.*1774del (MMACHC)	NP_056321.2:n.*1774del
NM_001330540.1:c.*1774del (MMACHC)	NP_001317469.1:n.*1774del
XM_005270724.5:c.*1774del (MMACHC)	XP_005270781.1:n.*1774del
NM_015506.3:c.*1774del (MMACHC) MANE Select	NP_056321.2:n.*1774del
NM_001330540.2:c.*1774del (MMACHC)	NP_001317469.1:n.*1774del