Canonical Allele Identifier: CA2586966631

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507396dup , CM000663.2:g.45507396dup	GRCh38
NC_000001.10:g.45973068dup , CM000663.1:g.45973068dup	GRCh37
NC_000001.9:g.45745655dup	NCBI36
NG_013378.1:g.12213dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.122dup MANE Select	ENSP00000383840.4:p.Pro42ThrfsTer19
ENST00000401061.8:c.122dup	ENSP00000383840.4:p.Pro42ThrfsTer19
ENST00000616135.1:c.-50dup	ENSP00000478859.1:n.-50dup
NM_015506.2:c.122dup	NP_056321.2:p.Pro42ThrfsTer19
XM_005270724.3:c.82-816dup	XP_005270781.1:n.82-816dup
XM_011541204.1:c.-50dup	XP_011539506.1:n.-50dup
NM_001330540.1:c.-50dup	NP_001317469.1:n.-50dup
XM_005270724.5:c.82-816dup	XP_005270781.1:n.82-816dup
NM_015506.3:c.122dup MANE Select	NP_056321.2:p.Pro42ThrfsTer19
NM_001330540.2:c.-50dup	NP_001317469.1:n.-50dup