Canonical Allele Identifier: CA340133285

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974556A>C (hg19) ; chr1:g.45508884A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508884A>C , CM000663.2:g.45508884A>C	GRCh38
NC_000001.10:g.45974556A>C , CM000663.1:g.45974556A>C	GRCh37
NC_000001.9:g.45747143A>C	NCBI36
NG_013378.1:g.13701A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.518A>C MANE Select	ENSP00000383840.4:p.Asp173Ala
ENST00000401061.8:c.518A>C	ENSP00000383840.4:p.Asp173Ala
ENST00000616135.1:c.347A>C	ENSP00000478859.1:p.Asp116Ala
NM_015506.2:c.518A>C	NP_056321.2:p.Asp173Ala
XM_005270724.3:c.323A>C	XP_005270781.1:p.Asp108Ala
XM_011541204.1:c.347A>C	XP_011539506.1:p.Asp116Ala
NM_001330540.1:c.347A>C	NP_001317469.1:p.Asp116Ala
XM_005270724.5:c.323A>C	XP_005270781.1:p.Asp108Ala
NM_015506.3:c.518A>C MANE Select	NP_056321.2:p.Asp173Ala
NM_001330540.2:c.347A>C	NP_001317469.1:p.Asp116Ala