Canonical Allele Identifier: CA312747
Gene: MMADHC HGNC NCBI
ClinVar RCV:
RCV001035983
RCV001128927
ClinVar Variation:
203838
COSMIC:
COSM3728166
dbSNP:
549522925
gnomAD v2:
2:150438722 C / A
gnomAD v3:
2:149582208 C / A
gnomAD v4:
chr2-149582208-C-A
Joint Max Group AF 0.00010544 (NFE)
Genomes Max Group AF 0.00017082 (NFE)
Exomes Max Group AF 0.00009667 (NFE)
MyVariant.info:
GRCh38 chr2:g.149582208C>A
GRCh37 chr2:g.150438722C>A
Revel Score:
ENST00000303319 (MANE Select) 0.751
ENST00000428879 0.751
ENST00000422782 0.751
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149582208C>A , CM000664.2:g.149582208C>A GRCh38
NC_000002.11:g.150438722C>A , CM000664.1:g.150438722C>A GRCh37
NC_000002.10:g.150146968C>A NCBI36
NG_009189.1:g.10609G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.73G>T MANE Select ENSP00000301920.5:p.Val25Phe
ENST00000303319.9:c.73G>T ENSP00000301920.5:p.Val25Phe
ENST00000422782.2:c.73G>T ENSP00000408331.2:p.Val25Phe
ENST00000428879.5:c.73G>T ENSP00000389060.1:p.Val25Phe
NM_015702.2:c.73G>T NP_056517.1:p.Val25Phe
NM_015702.3:c.73G>T MANE Select NP_056517.1:p.Val25Phe
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