Canonical Allele Identifier: CA312732
Gene: MMACHC HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.45508806G>C
GRCh37 chr1:g.45974478G>C
Revel Score:
ENST00000401061 (MANE Select) 0.910
gnomAD v2:
1:45974478 G / C
gnomAD v3:
1:45508806 G / C
gnomAD v4:
chr1-45508806-G-C
Joint Max Group AF 0.0005325 (AMR)
Genomes Max Group AF 0.00070732 (AMR)
Exomes Max Group AF 0.00038846 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508806G>C , CM000663.2:g.45508806G>C GRCh38
NC_000001.10:g.45974478G>C , CM000663.1:g.45974478G>C GRCh37
NC_000001.9:g.45747065G>C NCBI36
NG_013378.1:g.13623G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.440G>C MANE Select ENSP00000383840.4:p.Gly147Ala
ENST00000401061.8:c.440G>C ENSP00000383840.4:p.Gly147Ala
ENST00000616135.1:c.269G>C ENSP00000478859.1:p.Gly90Ala
NM_015506.2:c.440G>C NP_056321.2:p.Gly147Ala
XM_005270724.3:c.245G>C XP_005270781.1:p.Gly82Ala
XM_011541204.1:c.269G>C XP_011539506.1:p.Gly90Ala
NM_001330540.1:c.269G>C NP_001317469.1:p.Gly90Ala
XM_005270724.5:c.245G>C XP_005270781.1:p.Gly82Ala
NM_015506.3:c.440G>C MANE Select NP_056321.2:p.Gly147Ala
NM_001330540.2:c.269G>C NP_001317469.1:p.Gly90Ala
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