Canonical Allele Identifier: CA827615

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 297479
• ClinVar RCV Id: RCV000308210 ; RCV001700037 ; RCV003387828 ; RCV002520495 ; RCV002522131
• dbSNP Id: rs201898615
• ExAC: 1:45966071 G / T
• gnomAD v2: 1-45966071-G-T
• gnomAD v3: 1-45500399-G-T
• gnomAD v4: 1-45500399-G-T
• MyVariant Identifiers: chr1:g.45966071G>T (hg19) ; chr1:g.45500399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500399G>T , CM000663.2:g.45500399G>T	GRCh38
NC_000001.10:g.45966071G>T , CM000663.1:g.45966071G>T	GRCh37
NC_000001.9:g.45738658G>T	NCBI36
NG_013378.1:g.5216G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.67G>T MANE Select	ENSP00000383840.4:p.Val23Phe
ENST00000401061.8:c.67G>T	ENSP00000383840.4:p.Val23Phe
ENST00000616135.1:c.-105G>T	ENSP00000478859.1:n.-105G>T
NM_015506.2:c.67G>T	NP_056321.2:p.Val23Phe
XM_005270724.3:c.67G>T	XP_005270781.1:p.Val23Phe
XM_011541204.1:c.-156G>T	XP_011539506.1:n.-156G>T
NM_001330540.1:c.-156G>T	NP_001317469.1:n.-156G>T
XM_005270724.5:c.67G>T	XP_005270781.1:p.Val23Phe
NM_015506.3:c.67G>T MANE Select	NP_056321.2:p.Val23Phe
NM_001330540.2:c.-156G>T	NP_001317469.1:n.-156G>T