Canonical Allele Identifier: CA348869466
Gene: MMADHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.150426679A>G (hg19) chr2:g.149570165A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570165A>G , CM000664.2:g.149570165A>G GRCh38
NC_000002.11:g.150426679A>G , CM000664.1:g.150426679A>G GRCh37
NC_000002.10:g.150134925A>G NCBI36
NG_009189.1:g.22652T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.700T>C MANE Select ENSP00000301920.5:p.Phe234Leu
ENST00000303319.9:c.700T>C ENSP00000301920.5:p.Phe234Leu
ENST00000422782.2:c.802T>C ENSP00000408331.2:p.Phe268Leu
ENST00000428879.5:c.700T>C ENSP00000389060.1:p.Phe234Leu
NM_015702.2:c.700T>C NP_056517.1:p.Phe234Leu
NM_015702.3:c.700T>C MANE Select NP_056517.1:p.Phe234Leu
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