Canonical Allele Identifier: CA429405905
Gene: MMADHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.150426581A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570067A>C , CM000664.2:g.149570067A>C GRCh38
NC_000002.11:g.150426581A>C , CM000664.1:g.150426581A>C GRCh37
NC_000002.10:g.150134827A>C NCBI36
NG_009189.1:g.22750T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.798T>G MANE Select ENSP00000301920.5:p.Arg266=
ENST00000303319.9:c.798T>G ENSP00000301920.5:p.Arg266=
ENST00000422782.2:c.900T>G ENSP00000408331.2:p.Arg300=
ENST00000428879.5:c.798T>G ENSP00000389060.1:p.Arg266=
NM_015702.2:c.798T>G NP_056517.1:p.Arg266=
NM_015702.3:c.798T>G MANE Select NP_056517.1:p.Arg266=