Canonical Allele Identifier: CA272838
Gene: MMACHC HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.45507550G>T
GRCh37 chr1:g.45973222G>T
Revel Score:
ENST00000401061 (MANE Select) 0.276
gnomAD v2:
1:45973222 G / T
gnomAD v3:
1:45507550 G / T
gnomAD v4:
chr1-45507550-G-T
Joint Max Group AF 0.00001567 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.0000146 (NFE)
ClinVar RCV:
RCV000148298
ClinVar Variation:
161117
dbSNP:
556977618
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45507550G>T , CM000663.2:g.45507550G>T GRCh38
NC_000001.10:g.45973222G>T , CM000663.1:g.45973222G>T GRCh37
NC_000001.9:g.45745809G>T NCBI36
NG_013378.1:g.12367G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.276G>T MANE Select ENSP00000383840.4:p.Glu92Asp
ENST00000401061.8:c.276G>T ENSP00000383840.4:p.Glu92Asp
ENST00000616135.1:c.105G>T ENSP00000478859.1:p.Glu35Asp
NM_015506.2:c.276G>T NP_056321.2:p.Glu92Asp
XM_005270724.3:c.82-662G>T XP_005270781.1:n.82-662G>T
XM_011541204.1:c.105G>T XP_011539506.1:p.Glu35Asp
NM_001330540.1:c.105G>T NP_001317469.1:p.Glu35Asp
XM_005270724.5:c.82-662G>T XP_005270781.1:n.82-662G>T
NM_015506.3:c.276G>T MANE Select NP_056321.2:p.Glu92Asp
NM_001330540.2:c.105G>T NP_001317469.1:p.Glu35Asp
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