Canonical Allele Identifier: CA2573132354

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 1453735
• ClinVar RCV Id: RCV002037976
• dbSNP Id: rs765913293

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508985del , CM000663.2:g.45508985del	GRCh38
NC_000001.10:g.45974657del , CM000663.1:g.45974657del	GRCh37
NC_000001.9:g.45747244del	NCBI36
NG_013378.1:g.13802del

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.619del MANE Select	ENSP00000383840.4:p.Asp207MetfsTer3
ENST00000401061.8:c.619del	ENSP00000383840.4:p.Asp207MetfsTer3
ENST00000616135.1:c.448del	ENSP00000478859.1:p.Asp150MetfsTer3
NM_015506.2:c.619del	NP_056321.2:p.Asp207MetfsTer3
XM_005270724.3:c.424del	XP_005270781.1:p.Asp142MetfsTer3
XM_011541204.1:c.448del	XP_011539506.1:p.Asp150MetfsTer3
NM_001330540.1:c.448del	NP_001317469.1:p.Asp150MetfsTer3
XM_005270724.5:c.424del	XP_005270781.1:p.Asp142MetfsTer3
NM_015506.3:c.619del MANE Select	NP_056321.2:p.Asp207MetfsTer3
NM_001330540.2:c.448del	NP_001317469.1:p.Asp150MetfsTer3