Canonical Allele Identifier: CA658821032

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 556363
• ClinVar RCV Id: RCV000672361
• dbSNP Id: rs1553162943
• MyVariant Identifiers: chr1:g.45508940del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508940del , CM000663.2:g.45508940del	GRCh38
NC_000001.10:g.45974612del , CM000663.1:g.45974612del	GRCh37
NC_000001.9:g.45747199del	NCBI36
NG_013378.1:g.13757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.574del MANE Select	ENSP00000383840.4:p.Leu192TyrfsTer18
ENST00000401061.8:c.574del	ENSP00000383840.4:p.Leu192TyrfsTer18
ENST00000616135.1:c.403del	ENSP00000478859.1:p.Leu135TyrfsTer18
NM_015506.2:c.574del	NP_056321.2:p.Leu192TyrfsTer18
XM_005270724.3:c.379del	XP_005270781.1:p.Leu127TyrfsTer18
XM_011541204.1:c.403del	XP_011539506.1:p.Leu135TyrfsTer18
NM_001330540.1:c.403del	NP_001317469.1:p.Leu135TyrfsTer18
XM_005270724.5:c.379del	XP_005270781.1:p.Leu127TyrfsTer18
NM_015506.3:c.574del MANE Select	NP_056321.2:p.Leu192TyrfsTer18
NM_001330540.2:c.403del	NP_001317469.1:p.Leu135TyrfsTer18