Canonical Allele Identifier: CA658821031

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 558524
• ClinVar RCV Id: RCV000674810
• dbSNP Id: rs1553162937
• MyVariant Identifiers: chr1:g.45508927_45508938del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508927_45508938del , CM000663.2:g.45508927_45508938del	GRCh38
NC_000001.10:g.45974599_45974610del , CM000663.1:g.45974599_45974610del	GRCh37
NC_000001.9:g.45747186_45747197del	NCBI36
NG_013378.1:g.13744_13755del

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.561_572del MANE Select	ENSP00000383840.4:p.Asp188_Ala191del
ENST00000401061.8:c.561_572del	ENSP00000383840.4:p.Asp188_Ala191del
ENST00000616135.1:c.390_401del	ENSP00000478859.1:p.Asp131_Ala134del
NM_015506.2:c.561_572del	NP_056321.2:p.Asp188_Ala191del
XM_005270724.3:c.366_377del	XP_005270781.1:p.Asp123_Ala126del
XM_011541204.1:c.390_401del	XP_011539506.1:p.Asp131_Ala134del
NM_001330540.1:c.390_401del	NP_001317469.1:p.Asp131_Ala134del
XM_005270724.5:c.366_377del	XP_005270781.1:p.Asp123_Ala126del
NM_015506.3:c.561_572del MANE Select	NP_056321.2:p.Asp188_Ala191del
NM_001330540.2:c.390_401del	NP_001317469.1:p.Asp131_Ala134del