Canonical Allele Identifier: CA827723

Gene: MMACHC

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508329C>A , CM000663.2:g.45508329C>A	GRCh38
NC_000001.10:g.45974001C>A , CM000663.1:g.45974001C>A	GRCh37
NC_000001.9:g.45746588C>A	NCBI36
NG_013378.1:g.13146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.394C>A MANE Select	ENSP00000383840.4:p.Arg132=
ENST00000401061.8:c.394C>A	ENSP00000383840.4:p.Arg132=
ENST00000616135.1:c.223C>A	ENSP00000478859.1:p.Arg75=
NM_015506.2:c.394C>A	NP_056321.2:p.Arg132=
XM_005270724.3:c.199C>A	XP_005270781.1:p.Arg67=
XM_011541204.1:c.223C>A	XP_011539506.1:p.Arg75=
NM_001330540.1:c.223C>A	NP_001317469.1:p.Arg75=
XM_005270724.5:c.199C>A	XP_005270781.1:p.Arg67=
NM_015506.3:c.394C>A MANE Select	NP_056321.2:p.Arg132=
NM_001330540.2:c.223C>A	NP_001317469.1:p.Arg75=