Canonical Allele Identifier: CA245353

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509214G>T , CM000663.2:g.45509214G>T	GRCh38
NC_000001.10:g.45974886G>T , CM000663.1:g.45974886G>T	GRCh37
NC_000001.9:g.45747473G>T	NCBI36
NG_013378.1:g.14031G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.848G>T MANE Select	ENSP00000383840.4:p.Ter283Leu
ENST00000401061.8:c.848G>T	ENSP00000383840.4:p.Ter283Leu
ENST00000616135.1:c.677G>T	ENSP00000478859.1:p.Ter226Leu
NM_015506.2:c.848G>T	NP_056321.2:p.Ter283Leu
XM_005270724.3:c.653G>T	XP_005270781.1:p.Ter218Leu
XM_011541204.1:c.677G>T	XP_011539506.1:p.Ter226Leu
NM_001330540.1:c.677G>T	NP_001317469.1:p.Ter226Leu
XM_005270724.5:c.653G>T	XP_005270781.1:p.Ter218Leu
NM_015506.3:c.848G>T MANE Select	NP_056321.2:p.Ter283Leu
NM_001330540.2:c.677G>T	NP_001317469.1:p.Ter226Leu