Canonical Allele Identifier: CA1297264306
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570079A= , CM000664.2:g.149570079A= GRCh38
NC_000002.11:g.150426593A= , CM000664.1:g.150426593A= GRCh37
NC_000002.10:g.150134839A= NCBI36
NG_009189.1:g.22738T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.786T= MANE Select ENSP00000301920.5:p.Cys262=
ENST00000303319.9:c.786T= ENSP00000301920.5:p.Cys262=
ENST00000422782.2:c.888T= ENSP00000408331.2:p.Cys296=
ENST00000428879.5:c.786T= ENSP00000389060.1:p.Cys262=
NM_015702.2:c.786T= NP_056517.1:p.Cys262=
NM_015702.3:c.786T= MANE Select NP_056517.1:p.Cys262=