Canonical Allele Identifier: CA417881511

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974650T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508978T>C , CM000663.2:g.45508978T>C	GRCh38
NC_000001.10:g.45974650T>C , CM000663.1:g.45974650T>C	GRCh37
NC_000001.9:g.45747237T>C	NCBI36
NG_013378.1:g.13795T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.612T>C MANE Select	ENSP00000383840.4:p.Thr204=
ENST00000401061.8:c.612T>C	ENSP00000383840.4:p.Thr204=
ENST00000616135.1:c.441T>C	ENSP00000478859.1:p.Thr147=
NM_015506.2:c.612T>C	NP_056321.2:p.Thr204=
XM_005270724.3:c.417T>C	XP_005270781.1:p.Thr139=
XM_011541204.1:c.441T>C	XP_011539506.1:p.Thr147=
NM_001330540.1:c.441T>C	NP_001317469.1:p.Thr147=
XM_005270724.5:c.417T>C	XP_005270781.1:p.Thr139=
NM_015506.3:c.612T>C MANE Select	NP_056321.2:p.Thr204=
NM_001330540.2:c.441T>C	NP_001317469.1:p.Thr147=