Canonical Allele Identifier: CA340128762

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45966075A>T (hg19) ; chr1:g.45500403A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500403A>T , CM000663.2:g.45500403A>T	GRCh38
NC_000001.10:g.45966075A>T , CM000663.1:g.45966075A>T	GRCh37
NC_000001.9:g.45738662A>T	NCBI36
NG_013378.1:g.5220A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.71A>T MANE Select	ENSP00000383840.4:p.Tyr24Phe
ENST00000401061.8:c.71A>T	ENSP00000383840.4:p.Tyr24Phe
ENST00000616135.1:c.-101A>T	ENSP00000478859.1:n.-101A>T
NM_015506.2:c.71A>T	NP_056321.2:p.Tyr24Phe
XM_005270724.3:c.71A>T	XP_005270781.1:p.Tyr24Phe
XM_011541204.1:c.-152A>T	XP_011539506.1:n.-152A>T
NM_001330540.1:c.-152A>T	NP_001317469.1:n.-152A>T
XM_005270724.5:c.71A>T	XP_005270781.1:p.Tyr24Phe
NM_015506.3:c.71A>T MANE Select	NP_056321.2:p.Tyr24Phe
NM_001330540.2:c.-152A>T	NP_001317469.1:n.-152A>T