Canonical Allele Identifier: CA1297264305
Gene: MMADHC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570078T= , CM000664.2:g.149570078T= GRCh38
NC_000002.11:g.150426592T= , CM000664.1:g.150426592T= GRCh37
NC_000002.10:g.150134838T= NCBI36
NG_009189.1:g.22739A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.787A= MANE Select ENSP00000301920.5:p.Lys263=
ENST00000303319.9:c.787A= ENSP00000301920.5:p.Lys263=
ENST00000422782.2:c.889A= ENSP00000408331.2:p.Lys297=
ENST00000428879.5:c.787A= ENSP00000389060.1:p.Lys263=
NM_015702.2:c.787A= NP_056517.1:p.Lys263=
NM_015702.3:c.787A= MANE Select NP_056517.1:p.Lys263=