Canonical Allele Identifier: CA21830974

Gene: MMACHC PRDX1

Linked Data

• ClinVar Variation Id: 876535
• ClinVar RCV Id: RCV001101454
• dbSNP Id: rs148427166
• gnomAD v2: 1-45976630-C-T
• gnomAD v3: 1-45510958-C-T
• gnomAD v4: 1-45510958-C-T
• MyVariant Identifiers: chr1:g.45976630C>T (hg19) ; chr1:g.45510958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45510958C>T , CM000663.2:g.45510958C>T	GRCh38
NC_000001.10:g.45976630C>T , CM000663.1:g.45976630C>T	GRCh37
NC_000001.9:g.45749217C>T	NCBI36
NG_013378.1:g.15775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.*1743C>T (MMACHC) MANE Select	ENSP00000383840.4:n.*1743C>T
ENST00000424390.2:c.*371G>A (PRDX1)	ENSP00000389047.2:n.*371G>A
ENST00000447184.6:c.*371G>A (PRDX1)	ENSP00000407034.2:n.*371G>A
ENST00000676549.1:c.*371G>A (PRDX1)	ENSP00000503140.1:n.*371G>A
ENST00000401061.8:c.*1743C>T (MMACHC)	ENSP00000383840.4:n.*1743C>T
ENST00000616135.1:c.*562C>T (MMACHC)	ENSP00000478859.1:n.*562C>T
NM_015506.2:c.*1743C>T (MMACHC)	NP_056321.2:n.*1743C>T
NM_001330540.1:c.*1743C>T (MMACHC)	NP_001317469.1:n.*1743C>T
XM_005270724.5:c.*1743C>T (MMACHC)	XP_005270781.1:n.*1743C>T
NM_015506.3:c.*1743C>T (MMACHC) MANE Select	NP_056321.2:n.*1743C>T
NM_001330540.2:c.*1743C>T (MMACHC)	NP_001317469.1:n.*1743C>T