Canonical Allele Identifier: CA340133504

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974612C>A (hg19) ; chr1:g.45508940C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508940C>A , CM000663.2:g.45508940C>A	GRCh38
NC_000001.10:g.45974612C>A , CM000663.1:g.45974612C>A	GRCh37
NC_000001.9:g.45747199C>A	NCBI36
NG_013378.1:g.13757C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.574C>A MANE Select	ENSP00000383840.4:p.Leu192Ile
ENST00000401061.8:c.574C>A	ENSP00000383840.4:p.Leu192Ile
ENST00000616135.1:c.403C>A	ENSP00000478859.1:p.Leu135Ile
NM_015506.2:c.574C>A	NP_056321.2:p.Leu192Ile
XM_005270724.3:c.379C>A	XP_005270781.1:p.Leu127Ile
XM_011541204.1:c.403C>A	XP_011539506.1:p.Leu135Ile
NM_001330540.1:c.403C>A	NP_001317469.1:p.Leu135Ile
XM_005270724.5:c.379C>A	XP_005270781.1:p.Leu127Ile
NM_015506.3:c.574C>A MANE Select	NP_056321.2:p.Leu192Ile
NM_001330540.2:c.403C>A	NP_001317469.1:p.Leu135Ile