Canonical Allele Identifier: CA114488
Community Standard Title: NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
Gene: MMADHC HGNC NCBI
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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
NM_015702.3:c.746A>G MANE Select NP_056517.1:p.Tyr249Cys
ENST00000303319.10:c.746A>G MANE Select ENSP00000301920.5:p.Tyr249Cys
NM_015702.2:c.746A>G NP_056517.1: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
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