Canonical Allele Identifier: CA827601

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 799351
• ClinVar RCV Id: RCV000982948
• dbSNP Id: rs770446383
• ExAC: 1:45966037 G / A
• gnomAD v2: 1-45966037-G-A
• gnomAD v4: 1-45500365-G-A
• MyVariant Identifiers: chr1:g.45966037G>A (hg19) ; chr1:g.45500365G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500365G>A , CM000663.2:g.45500365G>A	GRCh38
NC_000001.10:g.45966037G>A , CM000663.1:g.45966037G>A	GRCh37
NC_000001.9:g.45738624G>A	NCBI36
NG_013378.1:g.5182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.33G>A MANE Select	ENSP00000383840.4:p.Lys11=
ENST00000401061.8:c.33G>A	ENSP00000383840.4:p.Lys11=
ENST00000616135.1:c.-139G>A	ENSP00000478859.1:n.-139G>A
NM_015506.2:c.33G>A	NP_056321.2:p.Lys11=
XM_005270724.3:c.33G>A	XP_005270781.1:p.Lys11=
XM_011541204.1:c.-190G>A	XP_011539506.1:n.-190G>A
NM_001330540.1:c.-190G>A	NP_001317469.1:n.-190G>A
XM_005270724.5:c.33G>A	XP_005270781.1:p.Lys11=
NM_015506.3:c.33G>A MANE Select	NP_056321.2:p.Lys11=
NM_001330540.2:c.-190G>A	NP_001317469.1:n.-190G>A