Canonical Allele Identifier: CA827865

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509165C>T , CM000663.2:g.45509165C>T	GRCh38
NC_000001.10:g.45974837C>T , CM000663.1:g.45974837C>T	GRCh37
NC_000001.9:g.45747424C>T	NCBI36
NG_013378.1:g.13982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.799C>T MANE Select	ENSP00000383840.4:p.Arg267Trp
ENST00000401061.8:c.799C>T	ENSP00000383840.4:p.Arg267Trp
ENST00000616135.1:c.628C>T	ENSP00000478859.1:p.Arg210Trp
NM_015506.2:c.799C>T	NP_056321.2:p.Arg267Trp
XM_005270724.3:c.604C>T	XP_005270781.1:p.Arg202Trp
XM_011541204.1:c.628C>T	XP_011539506.1:p.Arg210Trp
NM_001330540.1:c.628C>T	NP_001317469.1:p.Arg210Trp
XM_005270724.5:c.604C>T	XP_005270781.1:p.Arg202Trp
NM_015506.3:c.799C>T MANE Select	NP_056321.2:p.Arg267Trp
NM_001330540.2:c.628C>T	NP_001317469.1:p.Arg210Trp