Canonical Allele Identifier: CA1001254645

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643516622
• gnomAD v3: 1-45500349-CA-C
• gnomAD v4: 1-45500349-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500350del , CM000663.2:g.45500350del	GRCh38
NC_000001.10:g.45966022del , CM000663.1:g.45966022del	GRCh37
NC_000001.9:g.45738609del	NCBI36
NG_013378.1:g.5167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.18del MANE Select	ENSP00000383840.4:p.Glu7SerfsTer2
ENST00000401061.8:c.18del	ENSP00000383840.4:p.Glu7SerfsTer2
ENST00000616135.1:c.-154del	ENSP00000478859.1:n.-154del
NM_015506.2:c.18del	NP_056321.2:p.Glu7SerfsTer2
XM_005270724.3:c.18del	XP_005270781.1:p.Glu7SerfsTer2
XM_011541204.1:c.-205del	XP_011539506.1:n.-205del
NM_001330540.1:c.-205del	NP_001317469.1:n.-205del
XM_005270724.5:c.18del	XP_005270781.1:p.Glu7SerfsTer2
NM_015506.3:c.18del MANE Select	NP_056321.2:p.Glu7SerfsTer2
NM_001330540.2:c.-205del	NP_001317469.1:n.-205del