Canonical Allele Identifier: CA736194698

Gene: MMACHC PRDX1

Linked Data

• dbSNP Id: rs1337747517
• gnomAD v3: 1-45511030-T-C
• gnomAD v4: 1-45511030-T-C
• MyVariant Identifiers: chr1:g.45976702T>C (hg19) ; chr1:g.45511030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45511030T>C , CM000663.2:g.45511030T>C	GRCh38
NC_000001.10:g.45976702T>C , CM000663.1:g.45976702T>C	GRCh37
NC_000001.9:g.45749289T>C	NCBI36
NG_013378.1:g.15847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1815T>C (MMACHC) MANE Select	ENSP00000383840.4:n.*1815T>C
ENST00000424390.2:c.*299A>G (PRDX1)	ENSP00000389047.2:n.*299A>G
ENST00000447184.6:c.*299A>G (PRDX1)	ENSP00000407034.2:n.*299A>G
ENST00000676549.1:c.*299A>G (PRDX1)	ENSP00000503140.1:n.*299A>G
ENST00000401061.8:c.*1815T>C (MMACHC)	ENSP00000383840.4:n.*1815T>C
ENST00000616135.1:c.*634T>C (MMACHC)	ENSP00000478859.1:n.*634T>C
NM_015506.2:c.*1815T>C (MMACHC)	NP_056321.2:n.*1815T>C
NM_001330540.1:c.*1815T>C (MMACHC)	NP_001317469.1:n.*1815T>C
XM_005270724.5:c.*1815T>C (MMACHC)	XP_005270781.1:n.*1815T>C
NM_015506.3:c.*1815T>C (MMACHC) MANE Select	NP_056321.2:n.*1815T>C
NM_001330540.2:c.*1815T>C (MMACHC)	NP_001317469.1:n.*1815T>C