Canonical Allele Identifier: CA340128578

Gene: MMACHC

Linked Data

• dbSNP Id: rs1197773707
• gnomAD v2: 1-45966050-C-G
• gnomAD v3: 1-45500378-C-G
• gnomAD v4: 1-45500378-C-G
• MyVariant Identifiers: chr1:g.45966050C>G (hg19) ; chr1:g.45500378C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500378C>G , CM000663.2:g.45500378C>G	GRCh38
NC_000001.10:g.45966050C>G , CM000663.1:g.45966050C>G	GRCh37
NC_000001.9:g.45738637C>G	NCBI36
NG_013378.1:g.5195C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.46C>G MANE Select	ENSP00000383840.4:p.Leu16Val
ENST00000401061.8:c.46C>G	ENSP00000383840.4:p.Leu16Val
ENST00000616135.1:c.-126C>G	ENSP00000478859.1:n.-126C>G
NM_015506.2:c.46C>G	NP_056321.2:p.Leu16Val
XM_005270724.3:c.46C>G	XP_005270781.1:p.Leu16Val
XM_011541204.1:c.-177C>G	XP_011539506.1:n.-177C>G
NM_001330540.1:c.-177C>G	NP_001317469.1:n.-177C>G
XM_005270724.5:c.46C>G	XP_005270781.1:p.Leu16Val
NM_015506.3:c.46C>G MANE Select	NP_056321.2:p.Leu16Val
NM_001330540.2:c.-177C>G	NP_001317469.1:n.-177C>G