Canonical Allele Identifier: CA2991134078

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507320G>T , CM000663.2:g.45507320G>T	GRCh38
NC_000001.10:g.45972992G>T , CM000663.1:g.45972992G>T	GRCh37
NC_000001.9:g.45745579G>T	NCBI36
NG_013378.1:g.12137G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015506.3:c.82-36G>T MANE Select	NP_056321.2:n.82-36G>T
ENST00000401061.9:c.82-36G>T MANE Select	ENSP00000383840.4:n.82-36G>T
NM_001330540.1:c.-126G>T	NP_001317469.1:n.-126G>T
NM_001330540.2:c.-126G>T	NP_001317469.1:n.-126G>T
NM_015506.2:c.82-36G>T	NP_056321.2:n.82-36G>T
ENST00000401061.8:c.82-36G>T	ENSP00000383840.4:n.82-36G>T
ENST00000616135.1:c.-90-36G>T	ENSP00000478859.1:n.-90-36G>T
XM_005270724.3:c.82-892G>T	XP_005270781.1:n.82-892G>T
XM_005270724.5:c.82-892G>T	XP_005270781.1:n.82-892G>T
XM_011541204.1:c.-126G>T	XP_011539506.1:n.-126G>T