Canonical Allele Identifier: CA2538192563

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500311A>G , CM000663.2:g.45500311A>G	GRCh38
NC_000001.10:g.45965983A>G , CM000663.1:g.45965983A>G	GRCh37
NC_000001.9:g.45738570A>G	NCBI36
NG_013378.1:g.5128A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.-22A>G MANE Select	ENSP00000383840.4:n.-22A>G
ENST00000401061.8:c.-22A>G	ENSP00000383840.4:n.-22A>G
NM_015506.2:c.-22A>G	NP_056321.2:n.-22A>G
NM_001330540.1:c.-244A>G	NP_001317469.1:n.-244A>G
XM_005270724.5:c.-22A>G	XP_005270781.1:n.-22A>G
NM_015506.3:c.-22A>G MANE Select	NP_056321.2:n.-22A>G
NM_001330540.2:c.-244A>G	NP_001317469.1:n.-244A>G