Canonical Allele Identifier: CA429405937
Gene: MMADHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.150426629T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570115T>C , CM000664.2:g.149570115T>C GRCh38
NC_000002.11:g.150426629T>C , CM000664.1:g.150426629T>C GRCh37
NC_000002.10:g.150134875T>C NCBI36
NG_009189.1:g.22702A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.750A>G MANE Select ENSP00000301920.5:p.Arg250=
ENST00000303319.9:c.750A>G ENSP00000301920.5:p.Arg250=
ENST00000422782.2:c.852A>G ENSP00000408331.2:p.Arg284=
ENST00000428879.5:c.750A>G ENSP00000389060.1:p.Arg250=
NM_015702.2:c.750A>G NP_056517.1:p.Arg250=
NM_015702.3:c.750A>G MANE Select NP_056517.1:p.Arg250=