Canonical Allele Identifier: CA417704639

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45507502-T-A
• MyVariant Identifiers: chr1:g.45973174T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507502T>A , CM000663.2:g.45507502T>A	GRCh38
NC_000001.10:g.45973174T>A , CM000663.1:g.45973174T>A	GRCh37
NC_000001.9:g.45745761T>A	NCBI36
NG_013378.1:g.12319T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.228T>A MANE Select	ENSP00000383840.4:p.Thr76=
ENST00000401061.8:c.228T>A	ENSP00000383840.4:p.Thr76=
ENST00000616135.1:c.57T>A	ENSP00000478859.1:p.Thr19=
NM_015506.2:c.228T>A	NP_056321.2:p.Thr76=
XM_005270724.3:c.82-710T>A	XP_005270781.1:n.82-710T>A
XM_011541204.1:c.57T>A	XP_011539506.1:p.Thr19=
NM_001330540.1:c.57T>A	NP_001317469.1:p.Thr19=
XM_005270724.5:c.82-710T>A	XP_005270781.1:n.82-710T>A
NM_015506.3:c.228T>A MANE Select	NP_056321.2:p.Thr76=
NM_001330540.2:c.57T>A	NP_001317469.1:p.Thr19=