Canonical Allele Identifier: CA827783

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508911G>A , CM000663.2:g.45508911G>A	GRCh38
NC_000001.10:g.45974583G>A , CM000663.1:g.45974583G>A	GRCh37
NC_000001.9:g.45747170G>A	NCBI36
NG_013378.1:g.13728G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.545G>A MANE Select	ENSP00000383840.4:p.Cys182Tyr
ENST00000401061.8:c.545G>A	ENSP00000383840.4:p.Cys182Tyr
ENST00000616135.1:c.374G>A	ENSP00000478859.1:p.Cys125Tyr
NM_015506.2:c.545G>A	NP_056321.2:p.Cys182Tyr
XM_005270724.3:c.350G>A	XP_005270781.1:p.Cys117Tyr
XM_011541204.1:c.374G>A	XP_011539506.1:p.Cys125Tyr
NM_001330540.1:c.374G>A	NP_001317469.1:p.Cys125Tyr
XM_005270724.5:c.350G>A	XP_005270781.1:p.Cys117Tyr
NM_015506.3:c.545G>A MANE Select	NP_056321.2:p.Cys182Tyr
NM_001330540.2:c.374G>A	NP_001317469.1:p.Cys125Tyr