Canonical Allele Identifier: CA348868938
Gene: MMADHC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570038A>T , CM000664.2:g.149570038A>T GRCh38
NC_000002.11:g.150426552A>T , CM000664.1:g.150426552A>T GRCh37
NC_000002.10:g.150134798A>T NCBI36
NG_009189.1:g.22779T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.827T>A MANE Select ENSP00000301920.5:p.Val276Glu
ENST00000303319.9:c.827T>A ENSP00000301920.5:p.Val276Glu
ENST00000422782.2:c.929T>A ENSP00000408331.2:p.Val310Glu
ENST00000428879.5:c.827T>A ENSP00000389060.1:p.Val276Glu
NM_015702.2:c.827T>A NP_056517.1:p.Val276Glu
NM_015702.3:c.827T>A MANE Select NP_056517.1:p.Val276Glu