Canonical Allele Identifier: CA2574352268

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508755G>T , CM000663.2:g.45508755G>T	GRCh38
NC_000001.10:g.45974427G>T , CM000663.1:g.45974427G>T	GRCh37
NC_000001.9:g.45747014G>T	NCBI36
NG_013378.1:g.13572G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.430-41G>T MANE Select	ENSP00000383840.4:n.430-41G>T
ENST00000401061.8:c.430-41G>T	ENSP00000383840.4:n.430-41G>T
ENST00000616135.1:c.259-41G>T	ENSP00000478859.1:n.259-41G>T
NM_015506.2:c.430-41G>T	NP_056321.2:n.430-41G>T
XM_005270724.3:c.235-41G>T	XP_005270781.1:n.235-41G>T
XM_011541204.1:c.259-41G>T	XP_011539506.1:n.259-41G>T
NM_001330540.1:c.259-41G>T	NP_001317469.1:n.259-41G>T
XM_005270724.5:c.235-41G>T	XP_005270781.1:n.235-41G>T
NM_015506.3:c.430-41G>T MANE Select	NP_056321.2:n.430-41G>T
NM_001330540.2:c.259-41G>T	NP_001317469.1:n.259-41G>T