Canonical Allele Identifier: CA658821029

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 556017
• ClinVar RCV Id: RCV000671954
• dbSNP Id: rs1553162923
• MyVariant Identifiers: chr1:g.45508873_45508885del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508873_45508885del , CM000663.2:g.45508873_45508885del	GRCh38
NC_000001.10:g.45974545_45974557del , CM000663.1:g.45974545_45974557del	GRCh37
NC_000001.9:g.45747132_45747144del	NCBI36
NG_013378.1:g.13690_13702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.507_519del MANE Select	ENSP00000383840.4:p.Glu170CysfsTer?
ENST00000401061.8:c.507_519del	ENSP00000383840.4:p.Glu170CysfsTer?
ENST00000616135.1:c.336_348del	ENSP00000478859.1:p.Glu113CysfsTer?
NM_015506.2:c.507_519del	NP_056321.2:p.Glu170CysfsTer?
XM_005270724.3:c.312_324del	XP_005270781.1:p.Glu105CysfsTer?
XM_011541204.1:c.336_348del	XP_011539506.1:p.Glu113CysfsTer?
NM_001330540.1:c.336_348del	NP_001317469.1:p.Glu113CysfsTer?
XM_005270724.5:c.312_324del	XP_005270781.1:p.Glu105CysfsTer?
NM_015506.3:c.507_519del MANE Select	NP_056321.2:p.Glu170CysfsTer?
NM_001330540.2:c.336_348del	NP_001317469.1:p.Glu113CysfsTer?