Canonical Allele Identifier: CA736194654

Gene: MMACHC PRDX1

Linked Data

• dbSNP Id: rs1214400616
• gnomAD v3: 1-45511017-A-G
• gnomAD v4: 1-45511017-A-G
• MyVariant Identifiers: chr1:g.45976689A>G (hg19) ; chr1:g.45511017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511017A>G , CM000663.2:g.45511017A>G	GRCh38
NC_000001.10:g.45976689A>G , CM000663.1:g.45976689A>G	GRCh37
NC_000001.9:g.45749276A>G	NCBI36
NG_013378.1:g.15834A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1802A>G (MMACHC) MANE Select	ENSP00000383840.4:n.*1802A>G
ENST00000424390.2:c.*312T>C (PRDX1)	ENSP00000389047.2:n.*312T>C
ENST00000447184.6:c.*312T>C (PRDX1)	ENSP00000407034.2:n.*312T>C
ENST00000676549.1:c.*312T>C (PRDX1)	ENSP00000503140.1:n.*312T>C
ENST00000401061.8:c.*1802A>G (MMACHC)	ENSP00000383840.4:n.*1802A>G
ENST00000616135.1:c.*621A>G (MMACHC)	ENSP00000478859.1:n.*621A>G
NM_015506.2:c.*1802A>G (MMACHC)	NP_056321.2:n.*1802A>G
NM_001330540.1:c.*1802A>G (MMACHC)	NP_001317469.1:n.*1802A>G
XM_005270724.5:c.*1802A>G (MMACHC)	XP_005270781.1:n.*1802A>G
NM_015506.3:c.*1802A>G (MMACHC) MANE Select	NP_056321.2:n.*1802A>G
NM_001330540.2:c.*1802A>G (MMACHC)	NP_001317469.1:n.*1802A>G