Canonical Allele Identifier: CA417881723

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974713T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509041T>C , CM000663.2:g.45509041T>C	GRCh38
NC_000001.10:g.45974713T>C , CM000663.1:g.45974713T>C	GRCh37
NC_000001.9:g.45747300T>C	NCBI36
NG_013378.1:g.13858T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.675T>C MANE Select	ENSP00000383840.4:p.Thr225=
ENST00000401061.8:c.675T>C	ENSP00000383840.4:p.Thr225=
ENST00000616135.1:c.504T>C	ENSP00000478859.1:p.Thr168=
NM_015506.2:c.675T>C	NP_056321.2:p.Thr225=
XM_005270724.3:c.480T>C	XP_005270781.1:p.Thr160=
XM_011541204.1:c.504T>C	XP_011539506.1:p.Thr168=
NM_001330540.1:c.504T>C	NP_001317469.1:p.Thr168=
XM_005270724.5:c.480T>C	XP_005270781.1:p.Thr160=
NM_015506.3:c.675T>C MANE Select	NP_056321.2:p.Thr225=
NM_001330540.2:c.504T>C	NP_001317469.1:p.Thr168=