Canonical Allele Identifier: CA340128802

Gene: MMACHC

Linked Data

• dbSNP Id: rs1318571220
• gnomAD v3: 1-45500408-T-G
• gnomAD v4: 1-45500408-T-G
• MyVariant Identifiers: chr1:g.45966080T>G (hg19) ; chr1:g.45500408T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500408T>G , CM000663.2:g.45500408T>G	GRCh38
NC_000001.10:g.45966080T>G , CM000663.1:g.45966080T>G	GRCh37
NC_000001.9:g.45738667T>G	NCBI36
NG_013378.1:g.5225T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.76T>G MANE Select	ENSP00000383840.4:p.Phe26Val
ENST00000401061.8:c.76T>G	ENSP00000383840.4:p.Phe26Val
ENST00000616135.1:c.-96T>G	ENSP00000478859.1:n.-96T>G
NM_015506.2:c.76T>G	NP_056321.2:p.Phe26Val
XM_005270724.3:c.76T>G	XP_005270781.1:p.Phe26Val
XM_011541204.1:c.-147T>G	XP_011539506.1:n.-147T>G
NM_001330540.1:c.-147T>G	NP_001317469.1:n.-147T>G
XM_005270724.5:c.76T>G	XP_005270781.1:p.Phe26Val
NM_015506.3:c.76T>G MANE Select	NP_056321.2:p.Phe26Val
NM_001330540.2:c.-147T>G	NP_001317469.1:n.-147T>G