Canonical Allele Identifier: CA417705492

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45973913T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508241T>C , CM000663.2:g.45508241T>C	GRCh38
NC_000001.10:g.45973913T>C , CM000663.1:g.45973913T>C	GRCh37
NC_000001.9:g.45746500T>C	NCBI36
NG_013378.1:g.13058T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.306T>C MANE Select	ENSP00000383840.4:p.Ile102=
ENST00000401061.8:c.306T>C	ENSP00000383840.4:p.Ile102=
ENST00000616135.1:c.135T>C	ENSP00000478859.1:p.Ile45=
NM_015506.2:c.306T>C	NP_056321.2:p.Ile102=
XM_005270724.3:c.111T>C	XP_005270781.1:p.Ile37=
XM_011541204.1:c.135T>C	XP_011539506.1:p.Ile45=
NM_001330540.1:c.135T>C	NP_001317469.1:p.Ile45=
XM_005270724.5:c.111T>C	XP_005270781.1:p.Ile37=
NM_015506.3:c.306T>C MANE Select	NP_056321.2:p.Ile102=
NM_001330540.2:c.135T>C	NP_001317469.1:p.Ile45=