Canonical Allele Identifier: CA1297264264
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149569976A= , CM000664.2:g.149569976A= GRCh38
NC_000002.11:g.150426490A= , CM000664.1:g.150426490A= GRCh37
NC_000002.10:g.150134736A= NCBI36
NG_009189.1:g.22841T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.889T= MANE Select ENSP00000301920.5:p.Ter297=
ENST00000303319.9:c.889T= ENSP00000301920.5:p.Ter297=
ENST00000422782.2:c.991T= ENSP00000408331.2:p.Ter331=
ENST00000428879.5:c.889T= ENSP00000389060.1:p.Ter297=
NM_015702.2:c.889T= NP_056517.1:p.Ter297=
NM_015702.3:c.889T= MANE Select NP_056517.1:p.Ter297=