Canonical Allele Identifier: CA114488
Gene: MMADHC HGNC NCBI
ClinVar RCV:
RCV000000799
RCV001378885
RCV001844002
RCV002251849
ClinVar Variation:
763
dbSNP:
118204046
gnomAD v2:
2:150426633 T / C
gnomAD v3:
2:149570119 T / C
gnomAD v4:
chr2-149570119-T-C
Joint Max Group AF 0.00038903 (SAS)
Genomes Max Group AF 0.00028182 (SAS)
Exomes Max Group AF 0.00036955 (SAS)
MyVariant.info:
GRCh38 chr2:g.149570119T>C
GRCh37 chr2:g.150426633T>C
Revel Score:
ENST00000303319 (MANE Select) 0.892
ENST00000428879 0.892
ENST00000422782 0.892
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570119T>C , CM000664.2:g.149570119T>C GRCh38
NC_000002.11:g.150426633T>C , CM000664.1:g.150426633T>C GRCh37
NC_000002.10:g.150134879T>C NCBI36
NG_009189.1:g.22698A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.746A>G MANE Select ENSP00000301920.5:p.Tyr249Cys
ENST00000303319.9:c.746A>G ENSP00000301920.5:p.Tyr249Cys
ENST00000422782.2:c.848A>G ENSP00000408331.2:p.Tyr283Cys
ENST00000428879.5:c.746A>G ENSP00000389060.1:p.Tyr249Cys
NM_015702.2:c.746A>G NP_056517.1:p.Tyr249Cys
NM_015702.3:c.746A>G MANE Select NP_056517.1:p.Tyr249Cys
Search 100 bp 5'
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