Canonical Allele Identifier: CA417881286

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974521A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508849A>C , CM000663.2:g.45508849A>C	GRCh38
NC_000001.10:g.45974521A>C , CM000663.1:g.45974521A>C	GRCh37
NC_000001.9:g.45747108A>C	NCBI36
NG_013378.1:g.13666A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.483A>C MANE Select	ENSP00000383840.4:p.Arg161=
ENST00000401061.8:c.483A>C	ENSP00000383840.4:p.Arg161=
ENST00000616135.1:c.312A>C	ENSP00000478859.1:p.Arg104=
NM_015506.2:c.483A>C	NP_056321.2:p.Arg161=
XM_005270724.3:c.288A>C	XP_005270781.1:p.Arg96=
XM_011541204.1:c.312A>C	XP_011539506.1:p.Arg104=
NM_001330540.1:c.312A>C	NP_001317469.1:p.Arg104=
XM_005270724.5:c.288A>C	XP_005270781.1:p.Arg96=
NM_015506.3:c.483A>C MANE Select	NP_056321.2:p.Arg161=
NM_001330540.2:c.312A>C	NP_001317469.1:p.Arg104=