Canonical Allele Identifier: CA429405883
Gene: MMADHC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.150426551T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.149570037T>A , CM000664.2:g.149570037T>A GRCh38
NC_000002.11:g.150426551T>A , CM000664.1:g.150426551T>A GRCh37
NC_000002.10:g.150134797T>A NCBI36
NG_009189.1:g.22780A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000303319.10:c.828A>T MANE Select ENSP00000301920.5:p.Val276=
ENST00000303319.9:c.828A>T ENSP00000301920.5:p.Val276=
ENST00000422782.2:c.930A>T ENSP00000408331.2:p.Val310=
ENST00000428879.5:c.828A>T ENSP00000389060.1:p.Val276=
NM_015702.2:c.828A>T NP_056517.1:p.Val276=
NM_015702.3:c.828A>T MANE Select NP_056517.1:p.Val276=