Canonical Allele Identifier: CA2573051583

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 1304703
• ClinVar RCV Id: RCV001764939 ; RCV002488537
• dbSNP Id: rs2149323547

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508262_45508264delinsATTGCTGACTAC , CM000663.2:g.45508262_45508264delinsATTGCTGACTAC	GRCh38
NC_000001.10:g.45973934_45973936delinsATTGCTGACTAC , CM000663.1:g.45973934_45973936delinsATTGCTGACTAC	GRCh37
NC_000001.9:g.45746521_45746523delinsATTGCTGACTAC	NCBI36
NG_013378.1:g.13079_13081delinsATTGCTGACTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.327_329delinsATTGCTGACTAC MANE Select	ENSP00000383840.4:p.Asn110delinsLeuLeuThrThr
ENST00000401061.8:c.327_329delinsATTGCTGACTAC	ENSP00000383840.4:p.Asn110delinsLeuLeuThrThr
ENST00000616135.1:c.156_158delinsATTGCTGACTAC	ENSP00000478859.1:p.Asn53delinsLeuLeuThrThr
NM_015506.2:c.327_329delinsATTGCTGACTAC	NP_056321.2:p.Asn110delinsLeuLeuThrThr
XM_005270724.3:c.132_134delinsATTGCTGACTAC	XP_005270781.1:p.Asn45delinsLeuLeuThrThr
XM_011541204.1:c.156_158delinsATTGCTGACTAC	XP_011539506.1:p.Asn53delinsLeuLeuThrThr
NM_001330540.1:c.156_158delinsATTGCTGACTAC	NP_001317469.1:p.Asn53delinsLeuLeuThrThr
XM_005270724.5:c.132_134delinsATTGCTGACTAC	XP_005270781.1:p.Asn45delinsLeuLeuThrThr
NM_015506.3:c.327_329delinsATTGCTGACTAC MANE Select	NP_056321.2:p.Asn110delinsLeuLeuThrThr
NM_001330540.2:c.156_158delinsATTGCTGACTAC	NP_001317469.1:p.Asn53delinsLeuLeuThrThr