Canonical Allele Identifier: CA340133925

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974706T>A (hg19) ; chr1:g.45509034T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509034T>A , CM000663.2:g.45509034T>A	GRCh38
NC_000001.10:g.45974706T>A , CM000663.1:g.45974706T>A	GRCh37
NC_000001.9:g.45747293T>A	NCBI36
NG_013378.1:g.13851T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.668T>A MANE Select	ENSP00000383840.4:p.Phe223Tyr
ENST00000401061.8:c.668T>A	ENSP00000383840.4:p.Phe223Tyr
ENST00000616135.1:c.497T>A	ENSP00000478859.1:p.Phe166Tyr
NM_015506.2:c.668T>A	NP_056321.2:p.Phe223Tyr
XM_005270724.3:c.473T>A	XP_005270781.1:p.Phe158Tyr
XM_011541204.1:c.497T>A	XP_011539506.1:p.Phe166Tyr
NM_001330540.1:c.497T>A	NP_001317469.1:p.Phe166Tyr
XM_005270724.5:c.473T>A	XP_005270781.1:p.Phe158Tyr
NM_015506.3:c.668T>A MANE Select	NP_056321.2:p.Phe223Tyr
NM_001330540.2:c.497T>A	NP_001317469.1:p.Phe166Tyr