Canonical Allele Identifier: CA1297267234
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149576443G= , CM000664.2:g.149576443G= GRCh38
NC_000002.11:g.150432957G= , CM000664.1:g.150432957G= GRCh37
NC_000002.10:g.150141203G= NCBI36
NG_009189.1:g.16374C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.472C= MANE Select ENSP00000301920.5:p.Arg158=
ENST00000303319.9:c.472C= ENSP00000301920.5:p.Arg158=
ENST00000422782.2:c.472C= ENSP00000408331.2:p.Arg158=
ENST00000428879.5:c.472C= ENSP00000389060.1:p.Arg158=
NM_015702.2:c.472C= NP_056517.1:p.Arg158=
NM_015702.3:c.472C= MANE Select NP_056517.1:p.Arg158=