Canonical Allele Identifier: CA1001243618

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643665161
• gnomAD v3: 1-45508261-C-CATTG
• gnomAD v4: 1-45508261-C-CATTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508261_45508262insATTG , CM000663.2:g.45508261_45508262insATTG	GRCh38
NC_000001.10:g.45973933_45973934insATTG , CM000663.1:g.45973933_45973934insATTG	GRCh37
NC_000001.9:g.45746520_45746521insATTG	NCBI36
NG_013378.1:g.13078_13079insATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.326_327insATTG MANE Select	ENSP00000383840.4:p.Asn110LeufsTer30
ENST00000401061.8:c.326_327insATTG	ENSP00000383840.4:p.Asn110LeufsTer30
ENST00000616135.1:c.155_156insATTG	ENSP00000478859.1:p.Asn53LeufsTer30
NM_015506.2:c.326_327insATTG	NP_056321.2:p.Asn110LeufsTer30
XM_005270724.3:c.131_132insATTG	XP_005270781.1:p.Asn45LeufsTer30
XM_011541204.1:c.155_156insATTG	XP_011539506.1:p.Asn53LeufsTer30
NM_001330540.1:c.155_156insATTG	NP_001317469.1:p.Asn53LeufsTer30
XM_005270724.5:c.131_132insATTG	XP_005270781.1:p.Asn45LeufsTer30
NM_015506.3:c.326_327insATTG MANE Select	NP_056321.2:p.Asn110LeufsTer30
NM_001330540.2:c.155_156insATTG	NP_001317469.1:p.Asn53LeufsTer30