Canonical Allele Identifier: CA827594

Gene: MMACHC

Linked Data

• dbSNP Id: rs543492649
• ExAC: 1:45966009 A / T
• gnomAD v2: 1-45966009-A-T
• gnomAD v3: 1-45500337-A-T
• gnomAD v4: 1-45500337-A-T
• MyVariant Identifiers: chr1:g.45966009A>T (hg19) ; chr1:g.45500337A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500337A>T , CM000663.2:g.45500337A>T	GRCh38
NC_000001.10:g.45966009A>T , CM000663.1:g.45966009A>T	GRCh37
NC_000001.9:g.45738596A>T	NCBI36
NG_013378.1:g.5154A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.5A>T MANE Select	ENSP00000383840.4:p.Glu2Val
ENST00000401061.8:c.5A>T	ENSP00000383840.4:p.Glu2Val
NM_015506.2:c.5A>T	NP_056321.2:p.Glu2Val
XM_005270724.3:c.5A>T	XP_005270781.1:p.Glu2Val
XM_011541204.1:c.-218A>T	XP_011539506.1:n.-218A>T
NM_001330540.1:c.-218A>T	NP_001317469.1:n.-218A>T
XM_005270724.5:c.5A>T	XP_005270781.1:p.Glu2Val
NM_015506.3:c.5A>T MANE Select	NP_056321.2:p.Glu2Val
NM_001330540.2:c.-218A>T	NP_001317469.1:n.-218A>T