Canonical Allele Identifier: CA340128610

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45966054G>T (hg19) ; chr1:g.45500382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500382G>T , CM000663.2:g.45500382G>T	GRCh38
NC_000001.10:g.45966054G>T , CM000663.1:g.45966054G>T	GRCh37
NC_000001.9:g.45738641G>T	NCBI36
NG_013378.1:g.5199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.50G>T MANE Select	ENSP00000383840.4:p.Cys17Phe
ENST00000401061.8:c.50G>T	ENSP00000383840.4:p.Cys17Phe
ENST00000616135.1:c.-122G>T	ENSP00000478859.1:n.-122G>T
NM_015506.2:c.50G>T	NP_056321.2:p.Cys17Phe
XM_005270724.3:c.50G>T	XP_005270781.1:p.Cys17Phe
XM_011541204.1:c.-173G>T	XP_011539506.1:n.-173G>T
NM_001330540.1:c.-173G>T	NP_001317469.1:n.-173G>T
XM_005270724.5:c.50G>T	XP_005270781.1:p.Cys17Phe
NM_015506.3:c.50G>T MANE Select	NP_056321.2:p.Cys17Phe
NM_001330540.2:c.-173G>T	NP_001317469.1:n.-173G>T