Canonical Allele Identifier: CA340133509

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974613T>A (hg19) ; chr1:g.45508941T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508941T>A , CM000663.2:g.45508941T>A	GRCh38
NC_000001.10:g.45974613T>A , CM000663.1:g.45974613T>A	GRCh37
NC_000001.9:g.45747200T>A	NCBI36
NG_013378.1:g.13758T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.575T>A MANE Select	ENSP00000383840.4:p.Leu192Gln
ENST00000401061.8:c.575T>A	ENSP00000383840.4:p.Leu192Gln
ENST00000616135.1:c.404T>A	ENSP00000478859.1:p.Leu135Gln
NM_015506.2:c.575T>A	NP_056321.2:p.Leu192Gln
XM_005270724.3:c.380T>A	XP_005270781.1:p.Leu127Gln
XM_011541204.1:c.404T>A	XP_011539506.1:p.Leu135Gln
NM_001330540.1:c.404T>A	NP_001317469.1:p.Leu135Gln
XM_005270724.5:c.380T>A	XP_005270781.1:p.Leu127Gln
NM_015506.3:c.575T>A MANE Select	NP_056321.2:p.Leu192Gln
NM_001330540.2:c.404T>A	NP_001317469.1:p.Leu135Gln