Canonical Allele Identifier: CA1297264362
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570185G= , CM000664.2:g.149570185G= GRCh38
NC_000002.11:g.150426699G= , CM000664.1:g.150426699G= GRCh37
NC_000002.10:g.150134945G= NCBI36
NG_009189.1:g.22632C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.697-17C= MANE Select ENSP00000301920.5:n.697-17C=
ENST00000303319.9:c.697-17C= ENSP00000301920.5:n.697-17C=
ENST00000422782.2:c.799-17C= ENSP00000408331.2:n.799-17C=
ENST00000428879.5:c.697-17C= ENSP00000389060.1:n.697-17C=
NM_015702.2:c.697-17C= NP_056517.1:n.697-17C=
NM_015702.3:c.697-17C= MANE Select NP_056517.1:n.697-17C=